diff --git a/src/ontogpt/evaluation/hpoa/eval_hpoa.py b/src/ontogpt/evaluation/hpoa/eval_hpoa.py index c7fccc10d..85107a437 100644 --- a/src/ontogpt/evaluation/hpoa/eval_hpoa.py +++ b/src/ontogpt/evaluation/hpoa/eval_hpoa.py @@ -7,7 +7,7 @@ from random import shuffle from typing import Dict, Iterable, Iterator, List, Tuple -from oaklib import BasicOntologyInterface, get_implementation_from_shorthand +from oaklib import BasicOntologyInterface, get_adapter from oaklib.datamodels.search import SearchConfiguration from oaklib.datamodels.search_datamodel import SearchProperty from oaklib.interfaces import SearchInterface @@ -18,12 +18,10 @@ from ontogpt.evaluation.evaluation_engine import SimilarityScore, SPIRESEvaluationEngine from ontogpt.templates.mendelian_disease import MendelianDisease -THIS_DIR = Path(__file__).parent DATABASE_DIR = Path(__file__).parent / "database" -TEST_CASES_DIR = THIS_DIR / "test_cases" -EXEMPLARS_DIR = THIS_DIR / "exemplars" -EXEMPLAR_CASES = EXEMPLARS_DIR / "drugmechdb-exemplars.yaml" - +TEST_CASES_DIR = Path("tests").joinpath("input") +TEST_HPOA_FILE = "test_sample.hpoa.tsv" +NUM_TESTS = 3 # Note: each test requires input text; see provided test cases DISEASE_ID = str TERM = str @@ -72,18 +70,18 @@ class EvalHPOA(SPIRESEvaluationEngine): def __post_init__(self): self.extractor = SPIRESEngine("mendelian_disease.MendelianDisease") - self.mondo = get_implementation_from_shorthand("sqlite:obo:mondo") + self.mondo = get_adapter("sqlite:obo:mondo") def load_test_cases(self) -> List[MendelianDisease]: return [] def disease_text(self, id: str): - id = id.replace("OMIM:", "omim-") - with open(TEST_CASES_DIR / f"{id}.txt") as f: + id = id.lower().replace(":", "-") + with open(TEST_CASES_DIR / "cases" / f"{id}.txt") as f: return f.read() def parse_hpoa(self) -> Iterator[HPOAnnotation]: - with open(TEST_CASES_DIR / "test.hpoa.tsv") as file: + with open(TEST_CASES_DIR / TEST_HPOA_FILE) as file: reader = csv.reader(file, delimiter="\t") for row in reader: yield HPOAnnotation( @@ -155,7 +153,7 @@ def enhance(self, obj: MendelianDisease): obj.name = mondo.label(entity) obj.label = obj.name obj.description = mondo.definition(entity) - obj.subclass_of = list(mondo.hierararchical_parents(entity)) + obj.subclass_of = list(mondo.hierarchical_parents(entity)) obj.synonyms = list(mondo.entity_aliases(entity)) for _s, _p, gene in mondo.relationships([entity], ["RO:0004003"]): gene = ( @@ -176,7 +174,7 @@ def eval(self, task: str = None, **kwargs) -> EvaluationObjectSetHPOA: else: raise ValueError(f"Unknown task {task}") - def eval_against_pubs(self, num_tests=3) -> EvaluationObjectSetHPOA: + def eval_against_pubs(self, num_tests=NUM_TESTS) -> EvaluationObjectSetHPOA: ke = self.extractor pmc = PubmedClient() eos = EvaluationObjectSetHPOA() @@ -184,7 +182,7 @@ def eval_against_pubs(self, num_tests=3) -> EvaluationObjectSetHPOA: eos.training = [] eos.predictions = [] shuffle(eos.test) - for test_case in eos.test[0:num_tests]: + for test_case in eos.test[0:num_tests-1]: # text = self.disease_text(test_case.id) if len(test_case.publications) != 1: raise ValueError(f"Expected 1 publication, got {len(test_case.publications)}") @@ -204,7 +202,7 @@ def eval_against_omim_plus_pubs(self, **kwargs) -> EvaluationObjectSetHPOA: return self.eval_against_omim_or_pubs(use_publications=True) def eval_against_omim_or_pubs( - self, num_tests=3, use_publications=False + self, num_tests=NUM_TESTS, use_publications=False ) -> EvaluationObjectSetHPOA: ke = self.extractor eos = EvaluationObjectSetHPOA() diff --git a/tests/input/cases/omim-608716.txt b/tests/input/cases/omim-608716.txt new file mode 100644 index 000000000..9634bfa39 --- /dev/null +++ b/tests/input/cases/omim-608716.txt @@ -0,0 +1 @@ +Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009). \ No newline at end of file diff --git a/tests/input/cases/omim-619428.txt b/tests/input/cases/omim-619428.txt new file mode 100644 index 000000000..1d5a329dd --- /dev/null +++ b/tests/input/cases/omim-619428.txt @@ -0,0 +1 @@ +Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) is characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed (summary by Assoum et al., 2018 and Weng et al., 2021). \ No newline at end of file diff --git a/tests/input/cases/omim-620038.txt b/tests/input/cases/omim-620038.txt new file mode 100644 index 000000000..9e5752289 --- /dev/null +++ b/tests/input/cases/omim-620038.txt @@ -0,0 +1 @@ +Neurodevelopmental disorder with microcephaly, hypotonia, and absent language (NEDMHAL) is a severe autosomal recessive disorder characterized by the constellation of these features. Behavioral problems and hearing loss are also present (Ansar et al., 2020). \ No newline at end of file diff --git a/tests/input/test.hpoa.tsv b/tests/input/test.hpoa.tsv new file mode 100644 index 000000000..84adc3c44 --- /dev/null +++ b/tests/input/test.hpoa.tsv @@ -0,0 +1,1585 @@ +OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked HP:0000252 OMIM:301040 IEA P HPO:iea[2009-02-17] +OMIM:616239 Combined oxidative phosphorylation deficiency 24 HP:0000252 OMIM:616239 TAS P HPO:skoehler[2015-03-22] +OMIM:300475 Deafness, dystonia, and cerebral hypomyelination HP:0000252 OMIM:300475 TAS P HPO:skoehler[2013-11-18] +OMIM:605039 Bohring-Opitz syndrome HP:0000252 PMID:21706002 PCS 7/7 P HPO:iea[2009-02-17];HPO:probinson[2022-08-27] +OMIM:600093 Spondyloepiphyseal dysplasia tarda with characteristic facies HP:0000252 OMIM:600093 IEA P HPO:iea[2009-02-17] +OMIM:612389 Pontocerebellar hypoplasia, type 2B HP:0000252 PMID:18711368;PMID:23562994 PCS 2/2 P HPO:skoehler[2015-02-22];HPO:probinson[2022-09-12];HPO:probinson[2022-09-12] +OMIM:616734 Skin creases, congenital symmetric circumferential, 2 HP:0000252 PMID:26637975 PCS 1/4 P HPO:skoehler[2015-12-30];HPO:probinson[2022-10-23] +OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 HP:0000252 OMIM:615419 TAS P HPO:skoehler[2013-09-30] +OMIM:311400 Paine syndrome HP:0000252 OMIM:311400 IEA P HPO:iea[2009-02-17] +OMIM:619869 Neurocardiofaciodigital syndrome HP:0000252 PMID:33442026 PCS 2/3 P HPO:probinson[2022-08-07] +OMIM:617391 Epileptic encephalopathy, early infantile, 54 HP:0000252 OMIM:617391 TAS P HPO:skoehler[2017-07-13] +OMIM:601701 Arthrogryposis and ectodermal dysplasia HP:0000252 OMIM:601701 IEA P HPO:iea[2009-02-17] +OMIM:604804 Microcephaly 3, primary, autosomal recessive HP:0000252 OMIM:604804 TAS P HPO:skoehler[2009-02-17] +OMIM:620033 Developmental and epileptic encephalopathy 107 HP:0000252 PMID:28097321 PCS 1/1 P HPO:probinson[2022-10-03] +OMIM:614558 Epileptic encephalopathy, early infantile, 13 HP:0000252 PMID:25239001 PCS HP:0011463 1/1 P HPO:skoehler[2015-01-04];HPO:probinson[2022-06-04] +OMIM:242840 Vici syndrome HP:0000252 PMID:25331754 PCS 14/27 P HPO:iea[2009-02-17];HPO:probinson[2022-11-08] +OMIM:615574 Asparagine synthetase deficiency HP:0000252 PMID:24139043 PCS 8/8 P HPO:skoehler[2014-01-28];HPO:probinson[2022-12-14] +OMIM:617752 Mental retardation, autosomal dominant 49 HP:0000252 PMID:27848077;PMID:28251352 PCS 2/17 P HPO:probinson[2022-07-20] +OMIM:617162 Epileptic encephalopathy, early infantile, 46 HP:0000252 OMIM:617162 TAS P HPO:skoehler[2017-07-13] +OMIM:609049 Pierson syndrome HP:0000252 PMID:17256789 PCS 3/4 P HPO:probinson[2022-03-20];HPO:probinson[2022-03-20] +OMIM:612447 Skeletal defects, genital hypoplasia, and mental retardation HP:0000252 OMIM:612447 TAS P HPO:skoehler[2010-06-19] +OMIM:201550 Adducted thumbs syndrome HP:0000252 OMIM:201550 IEA P HPO:iea[2009-02-17] +OMIM:300884 Epileptic encephalopathy, early infantile, 36 HP:0000252 PMID:22492991 PCS 1/1 P HPO:skoehler[2012-11-25];HPO:probinson[2022-05-30] +OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile HP:0000252 PMID:24562058 PCS 2/3 P HPO:probinson[2022-08-16] +OMIM:251240 Microcephaly with chemotactic defect and transient hypogammaglobulinemia HP:0000252 OMIM:251240 IEA P HPO:iea[2009-02-17] +OMIM:618572 Neurodevelopmental disorder with cerebellar hypoplasia and spasticity HP:0000252 PMID:28542170 PCS 3/3 P HPO:probinson[2020-07-10];HPO:probinson[2020-07-10] +OMIM:614129 Perrault syndrome 3 HP:0000252 OMIM:614129 TAS HP:0040283 P HPO:skoehler[2013-10-06] +OMIM:619286 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia HP:0000252 PMID:33443317 PCS 4/14 P HPO:probinson[2021-06-14] +OMIM:609053 Fanconi anemia, complementation group I HP:0000252 OMIM:609053 IEA P HPO:skoehler[2019-04-18] +OMIM:620024 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities HP:0000252 PMID:35830857 PCS 15/16 P HPO:probinson[2022-09-05] +OMIM:235550 Hepatic venoocclusive disease with immunodeficiency HP:0000252 OMIM:235550 IEA P HPO:iea[2009-02-17] +OMIM:617284 Dystonia 28, childhood-onset HP:0000252 PMID:27839873 PCS 4/6 P HPO:skoehler[2017-07-13];HPO:probinson[2022-08-23] +OMIM:224230 Dyskeratosis congenita, autosomal recessive 1 HP:0000252 OMIM:224230 IEA P HPO:iea[2009-02-17] +OMIM:617481 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies HP:0000252 PMID:28334956 PCS 15/15 P HPO:skoehler[2018-10-08];HPO:probinson[2022-11-26] +OMIM:614485 Trigonocephaly 2 HP:0000252 OMIM:614485 TAS HP:0040283 P HPO:skoehler[2012-11-18] +OMIM:300712 Craniofacioskeletal syndrome HP:0000252 OMIM:300712 IEA P HPO:skoehler[2010-06-20] +OMIM:616910 Immunodeficiency-Centromeric instability-facial anomalies syndrome 3 HP:0000252 PMID:26216346 PCS P HPO:probinson[2017-06-26] +OMIM:614407 Microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome HP:0000252 OMIM:614407 TAS P HPO:skoehler[2013-01-22] +OMIM:612731 Faciocardiomelic syndrome HP:0000252 OMIM:612731 IEA P HPO:skoehler[2010-06-19] +OMIM:615328 Shaheen syndrome HP:0000252 OMIM:615328 TAS HP:0040283 P HPO:skoehler[2013-09-10] +OMIM:614104 Mental retardation, autosomal dominant 7 HP:0000252 PMID:23099646;PMID:25167861;PMID:25920557 PCS 17/17 P HPO:probinson[2013-08-10];HP:probinson[2019-02-24];HP:probinson[2019-02-24] +OMIM:190440 Trigonocephaly 1 HP:0000252 OMIM:190440 IEA P HPO:iea[2009-02-17] +OMIM:618877 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome HP:0000252 PMID:32197074 PCS 2/9 P HPO:probinson[2020-06-23] +OMIM:268250 Rhizomelic syndrome HP:0000252 OMIM:268250 IEA P HPO:iea[2009-02-17] +OMIM:617864 Neurodevelopmental disorder with or without seizures and gait abnormalities HP:0000252 OMIM:617864 IEA P HPO:skoehler[2019-04-18] +OMIM:607330 Lathosterolosis HP:0000252 PMID:12812989;PMID:17853487 PCS 3/3 P HPO:iea[2012-04-24] +OMIM:615338 Epileptic encephalopathy, early infantile, 16 HP:0000252 OMIM:615338 TAS HP:0040283 P HPO:skoehler[2013-10-06] +OMIM:600001 Pancreatic agenesis and congenital heart defects HP:0000252 OMIM:600001 TAS HP:0040283 P HPO:skoehler[2012-11-18] +OMIM:174300 Orofaciodigital syndrome V HP:0000252 PMID:28711741 PCS 3/3 P HPO:probinson[2022-03-21] +OMIM:618889 Liberfarb syndrome HP:0000252 PMID:31263216 PCS P HPO:probinson[2020-07-24] +OMIM:618736 Structural brain anomalies with impaired intellectual development and craniosynostosis HP:0000252 PMID:26340333 PCS 3/9 P HPO:probinson[2020-05-20] +OMIM:614098 Keppen-Lubinsky syndrome HP:0000252 OMIM:614098 TAS P HPO:skoehler[2015-04-05] +OMIM:616402 Microcephaly 14, primary, autosomal recessive HP:0000252 OMIM:616402 TAS P HPO:skoehler[2015-06-22] +OMIM:610756 Cerebrooculofacioskeletal syndrome 2 HP:0000252 PMID:11443545 PCS 1/1 P HPO:probinson[2013-04-01];HPO:probinson[2022-04-05] +OMIM:604317 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations HP:0000252 PMID:20729831;PMID:20890279 PCS 38/38 P HPO:probinson[2022-10-07];HPO:skoehler[2013-06-12];HPO:probinson[2022-10-07] +OMIM:615356 Muscular dystrophy, limb-girdle, autosomal recessive 18 HP:0000252 OMIM:615356 TAS P HPO:skoehler[2013-10-06] +OMIM:619955 Dworschak-Punetha neurodevelopmental syndrome HP:0000252 PMID:34054129 PCS 1/7 P HPO:probinson[2022-08-23];HPO:probinson[2022-08-23] +OMIM:613627 Brachydactyly, type A1, with short stature, scoliosis, microcephaly,ptosis, hearing loss, and mental retardation HP:0000252 OMIM:613627 TAS P HPO:skoehler[2012-10-17] +OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities HP:0000252 PMID:32707086 PCS 9/12 P HPO:probinson[2020-11-29] +DECIPHER:92 Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) HP:0000252 DECIPHER:92 IEA P HPO:skoehler[2013-05-29] +OMIM:618012 Epileptic encephalopathy, infantile or early childhood, 3 HP:0000252 OMIM:618012 IEA HP:0040284 P HPO:skoehler[2019-04-18] +OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities HP:0000252 PMID:32891193 PCS 4/19 P HP:probinson[2021-10-27] +OMIM:618644 Osteogenesis imperfecta, type XX HP:0000252 PMID:31564437 PCS 3/5 P HPO:probinson[2020-07-20] +OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia HP:0000252 OMIM:609945 IEA P HPO:iea[2009-02-17] +OMIM:619721 Bryant-Li-Bhoj neurodevelopmental syndrome 2 HP:0000252 PMID:33268356 PCS 8/13 P HPO:probinson[2022-05-09] +OMIM:300523 Allan-Herndon-Dudley syndrome HP:0000252 OMIM:300523 TAS P HPO:iea[2018-03-07] +OMIM:613402 Microcephaly, seizures, and developmental delay HP:0000252 PMID:20118933;PMID:23224214 PCS 13/13 P HPO:probinson[2020-12-14] +OMIM:617985 Microcephaly 23, primary, autosomal recessive HP:0000252 PMID:27737959 PCS 1/1 P HPO:skoehler[2019-04-18];HPO:probinson[2022-03-26] +OMIM:618603 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities HP:0000252 PMID:31353023 PCS 5/16 P HPO:probinson[2020-07-22] +OMIM:216400 Cockayne syndrome A HP:0000252 PMID:32160415;PMID:16865293 PCS 9/10 P HPO:iea[2009-02-17];HPO:probinson[2022-04-05];HPO:probinson[2022-04-05] +OMIM:247990 Macdermot-Winter syndrome HP:0000252 OMIM:247990 IEA P HPO:iea[2009-02-17] +OMIM:616632 Seizures, cortical blindness, and microcephaly syndrome HP:0000252 OMIM:616632 TAS P HPO:skoehler[2015-11-15] +OMIM:608097 Periventricular heterotopia with microcephaly, autosomal recessive HP:0000252 OMIM:608097 TAS P HPO:skoehler[2014-01-28] +OMIM:219100 Cutis laxa, autosomal recessive, type IA HP:0000252 OMIM:219100 TAS P HPO:skoehler[2014-11-26] +OMIM:612621 Intellectual developmental disorder, autosomal dominant 5 HP:0000252 PMID:21237447 PCS 1/3 P HPO:skoehler[2013-10-06];HPO:probinson[2022-06-18] +OMIM:619322 Marbach-Rustad progeroid syndrome HP:0000252 PMID:30905398 PCS 2/2 P HPO:probinson[2021-07-04] +OMIM:609981 Immunodeficiency 54 HP:0000252 PMID:22354167 PCS 3/4 P HPO:skoehler[2012-12-02];HPO:probinson[2021-05-30] +OMIM:610758 Cerebrooculofacioskeletal syndrome 4 HP:0000252 PMID:23623389;PMID:17273966 PCS 2/2 P HPO:probinson[2022-04-05];HPO:skoehler[2013-01-09];HPO:probinson[2022-04-05] +OMIM:613804 Meier-Gorlin syndrome 4 HP:0000252 PMID:21358632 PCS 2/7 P HPO:skoehler[2012-10-17];HPO:probinson[2022-03-26] +OMIM:616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration HP:0000252 OMIM:616878 TAS HP:0040283 P HPO:skoehler[2017-07-13] +OMIM:608393 Microcephaly, primary autosomal recessive, 6 HP:0000252 PMID:22775483 PCS 3/3 P HPO:iea[2009-02-17];HPO:probinson[2022-09-02] +OMIM:617984 Microcephaly 22, primary, autosomal recessive HP:0000252 PMID:27737959 PCS 2/2 P HPO:skoehler[2019-04-18];HPO:probinson[2023-01-18] +OMIM:615493 Mental retardation, autosomal recessive 37 HP:0000252 PMID:29302074 IEA 0/2 P HPO:probinson[2022-06-15] +OMIM:616154 Peroxisomal fatty acyl-CoA reductase 1 disorder HP:0000252 PMID:25439727 PCS 3/3 P HPO:skoehler[2015-01-28];HPO:probinson[2021-07-01] +OMIM:608432 Craniosynostosis, calcification of basal ganglia, and facial dysmorphism HP:0000252 OMIM:608432 IEA P HPO:iea[2009-02-17] +OMIM:618493 Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities HP:0000252 OMIM:618493 IEA HP:0040284 P HPO:skoehler[2019-09-07] +OMIM:618050 Mental retardation, autosomal dominant 57 HP:0000252 OMIM:618050 IEA P HPO:skoehler[2019-04-18] +OMIM:617661 Vertebral, cardiac, renal, and limb defects syndrome 2 HP:0000252 PMID:28792876 PCS 1/2 P HPO:skoehler[2018-10-08];HPO:probinson[2022-08-23] +OMIM:619453 Microcephaly 28, primary, autosomal recessive HP:0000252 PMID:33199730 PCS HP:0003577 8/8 HP:0012828 P HPO:probinson[2021-08-20] +OMIM:616672 Combined oxidative phosphorylation deficiency 27 HP:0000252 OMIM:616672 TAS P HPO:skoehler[2015-12-30] +OMIM:615160 Mitochondrial complex III deficiency, nuclear type 5 HP:0000252 PMID:23281071 PCS 1/3 P HPO:probinson[2021-07-08] +OMIM:615273 Congenital disorder of deglycosylation 1 HP:0000252 PMID:24651605 PCS 6/8 P HPO:probinson[2017-06-19] +OMIM:618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures HP:0000252 PMID:31616000 PCS 3/18 P HPO:probinson[2020-08-13] +OMIM:251250 Microcephaly with cervical spine fusion anomalies HP:0000252 OMIM:251250 IEA P HPO:iea[2009-02-17] +OMIM:615541 Mental retardation, autosomal recessive 39 HP:0000252 PMID:23956177 PCS 3/3 P HPO:skoehler[2013-11-28];HPO:probinson[2022-02-24] +OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature HP:0000252 PMID:30526862;PMID:30778726 PCS 7/8 P HPO:probinson[2022-06-19];HPO:skoehler[2019-04-18];HPO:probinson[2022-06-19] +OMIM:618741 Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy HP:0000252 PMID:31794024 PCS 7/7 P HPO:probinson[2020-05-08] +OMIM:619310 Leukodystrophy, hypomyelinating, 21 HP:0000252 PMID:30584594 PCS 2/2 P HPO:probinson[2021-07-03] +OMIM:613658 Rajab interstitial lung disease with brain calcifications HP:0000252 PMID:19161147 PCS 8/8 P HPO:skoehler[2012-10-17];HP:probinson[2019-02-19] +OMIM:610181 Aicardi-Goutieres syndrome 2 HP:0000252 OMIM:610181 TAS HP:0040283 P HPO:skoehler[2015-01-04] +OMIM:616393 Intellectual developmental disorder, autosomal dominant 38 HP:0000252 PMID:24697219 PCS 2/2 P HPO:probinson[2022-06-19] +OMIM:603585 Congenital disorder of glycosylation, type IIf HP:0000252 OMIM:603585 IEA P HPO:skoehler[2018-10-08] +OMIM:618874 Chromosome 17q11.2 duplication syndrome, 1.4-Mb HP:0000252 PMID:22241097 PCS 1/7 P HPO:probinson[2021-08-19] +OMIM:251190 Microcephalic primordial dwarfism, Toriello type HP:0000252 OMIM:251190 IEA P HPO:iea[2009-02-17] +OMIM:617635 Intellectual developmental disorder, autosomal dominant 47 HP:0000252 PMID:28119487 PCS 3/17 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-08] +OMIM:601453 Trichodental dysplasia HP:0000252 OMIM:601453 TAS HP:0012827 P HPO:probinson[2009-02-17] +OMIM:272440 Filippi syndrome HP:0000252 OMIM:272440 IEA P HPO:iea[2009-02-17] +OMIM:614749 Hyperphosphatasia with mental retardation syndrome 2 HP:0000252 PMID:22683086 PCS 1/3 P HPO:skoehler[2012-11-18];HPO:probinson[2021-09-08] +OMIM:615715 Bone marrow failure syndrome 2 HP:0000252 OMIM:615715 TAS P HPO:skoehler[2014-04-13] +OMIM:300915 Microphthalmia, syndromic 13 HP:0000252 OMIM:300915 TAS P HPO:skoehler[2014-02-06] +OMIM:616045 Combined oxidative phosphorylation deficiency 22 HP:0000252 OMIM:616045 TAS P HPO:skoehler[2014-11-26] +OMIM:617281 Epileptic encephalopathy, early infantile, 49 HP:0000252 OMIM:617281 IEA P HPO:skoehler[2019-04-18] +OMIM:617008 Cerebral palsy, spastic quadriplegic, 3 HP:0000252 PMID:23836506 PCS 4/4 P HPO:skoehler[2017-07-13];HPO:probinson[2021-09-20] +OMIM:500007 Cyclic vomiting syndrome HP:0000252 OMIM:500007 IEA P HPO:iea[2009-02-17] +OMIM:617709 Neurodevelopmental disorder with microcephaly, ataxia, and seizures HP:0000252 PMID:28236339 PCS 4/4 P HPO:skoehler[2019-04-18];HPO:probinson[2022-08-21] +OMIM:210730 Microcephalic osteodysplastic primordial dwarfism, type III HP:0000252 OMIM:210730 IEA P HPO:iea[2009-02-17] +OMIM:613676 Seckel syndrome 4 HP:0000252 OMIM:613676 TAS P HPO:skoehler[2012-10-17] +OMIM:616171 Microcephaly and chorioretinopathy, autosomal recessive, 2 HP:0000252 OMIM:616171 TAS P HPO:skoehler[2015-02-22] +OMIM:617751 Intellectual developmental disorder, autosomal dominant 48 HP:0000252 PMID:28886345 PCS 4/7 P HPO:probinson[2018-05-23] +OMIM:600118 Warburg micro syndrome 1 HP:0000252 OMIM:600118 IEA P HPO:iea[2009-02-17] +OMIM:216550 Cohen syndrome HP:0000252 OMIM:216550 IEA P HPO:iea[2009-02-17] +OMIM:615119 Mitochondrial complex IV deficiency, nuclear type 6 HP:0000252 OMIM:615119 TAS P HPO:skoehler[2013-05-03] +OMIM:613638 Chromosome 19p13.13 deletion syndrome HP:0000252 PMID:20613546 PCS P HPO:probinson[2017-06-23] +OMIM:616271 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia HP:0000252 PMID:25597511;PMID:25597510 PCS 10/19 P HPO:skoehler[2015-05-31];HPO:probinson[2022-06-04];HPO:probinson[2022-06-04] +OMIM:616647 Epileptic encephalopathy, early infantile, 35 HP:0000252 PMID:26224535 PCS 5/7 P HPO:probinson[2017-06-17] +OMIM:614114 Mosaic variegated aneuploidy syndrome 2 HP:0000252 PMID:21552266 PCS 2/4 P HPO:skoehler[2012-10-17];HPO:probinson[2021-02-18] +OMIM:610443 Koolen-De Vries syndrome HP:0000252 PMID:18628315 PCS 1/22 P HPO:iea[2010-09-08];HPO:probinson[2020-08-02] +OMIM:607872 Chromosome 1p36 deletion syndrome HP:0000252 PMID:18245432;PMID:12687501 PCS 57/90 P HPO:probinson[2021-07-03];HPO:probinson[2009-02-17] +OMIM:145290 HYPERREFLEXIA HP:0000252 OMIM:145290 TAS HP:0040283 P HPO:probinson[2009-02-17] +OMIM:200450 Achalasia-Microcephaly syndrome HP:0000252 OMIM:200450 IEA P HPO:iea[2009-02-17] +OMIM:617883 Fanconi anemia, complementation group S HP:0000252 OMIM:617883 IEA P HPO:skoehler[2019-04-18] +OMIM:618557 Epileptic encephalopathy, early infantile, 78 HP:0000252 PMID:31032849;PMID:29961870 PCS 11/15 P HPO:probinson[2020-06-28] +OMIM:601355 Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs HP:0000252 OMIM:601355 IEA P HPO:iea[2009-02-17] +OMIM:617873 Combined oxidative phosphorylation deficiency 35 HP:0000252 PMID:24901367 PCS 1/1 P HPO:skoehler[2019-04-18];HPO:probinson[2022-11-27] +OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities HP:0000252 PMID:24784135;PMID:26050939 PCS 3/4 P HPO:skoehler[2017-07-13];HPO:probinson[2021-06-27];HPO:probinson[2021-06-27] +OMIM:612015 Congenital disorder of glycosylation, type IN HP:0000252 OMIM:612015 TAS P HPO:skoehler[2015-08-16] +OMIM:618482 Generalized epilepsy with febrile seizures plus, type 10 HP:0000252 PMID:30351409 PCS 2/19 P HPO:probinson[2019-07-06] +OMIM:614886 Peroxisome biogenesis disorder 12A (Zellweger) HP:0000252 OMIM:614886 TAS P HPO:skoehler[2017-07-13] +OMIM:617988 Jaberi-Elahi syndrome HP:0000252 PMID:29449720 PCS 3/3 P HPO:skoehler[2019-04-18];HPO:probinson[2022-09-07] +OMIM:616682 Seizures, scoliosis, and macrocephaly/microcephaly syndrome HP:0000252 OMIM:616682 IEA P HPO:skoehler[2019-09-07] +OMIM:606242 Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphism HP:0000252 OMIM:606242 IEA P HPO:iea[2009-02-17] +OMIM:620062 Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 HP:0000252 PMID:32576952 PCS 2/3 P HPO:probinson[2022-10-02] +OMIM:272300 SULFOCYSTEINURIA HP:0000252 PMID:15952210;PMID:31127934 PCS 2/2 P HPO:probinson[2022-03-13] +OMIM:613885 Meckel syndrome, type 8 HP:0000252 PMID:21462283 PCS 1/5 P HPO:skoehler[2015-04-26];HPO:probinson[2022-10-30] +OMIM:617613 Multiple mitochondrial dysfunctions syndrome 5 HP:0000252 OMIM:617613 IEA HP:0040284 P HPO:skoehler[2019-04-18] +OMIM:300471 Cubitus valgus with mental retardation and unusual facies HP:0000252 OMIM:300471 IEA P HPO:iea[2009-02-17] +OMIM:208870 Ataxia-Microcephaly-Cataract syndrome HP:0000252 OMIM:208870 IEA P HPO:iea[2009-02-17] +OMIM:618724 Heyn-Sproul-Jackson syndrome HP:0000252 PMID:30478443 PCS 3/3 HP:0012828 P HPO:probinson[2020-05-11];HPO:probinson[2020-05-11] +OMIM:614067 Spastic paraplegia 52, autosomal recessive HP:0000252 OMIM:614067 TAS P HPO:skoehler[2012-10-17] +OMIM:615350 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 HP:0000252 OMIM:615350 TAS P HPO:skoehler[2013-10-06] +OMIM:300882 Cornelia de Lange syndrome 5 HP:0000252 OMIM:300882 TAS P HPO:skoehler[2017-07-13] +OMIM:225700 Encephalomalacia, multilocular HP:0000252 OMIM:225700 IEA P HPO:iea[2009-02-17] +OMIM:606744 Seckel syndrome 2 HP:0000252 PMID:21998596 PCS P HPO:probinson[2013-02-24] +OMIM:212080 Cardiac lipidosis, familial HP:0000252 OMIM:212080 IEA P HPO:iea[2009-02-17] +OMIM:616033 Microcephaly, short stature, and impaired glucose metabolism 1 HP:0000252 PMID:24204302 PCS 3/3 P HPO:skoehler[2014-10-06];HPO:probinson[2022-09-08] +OMIM:248800 Marinesco-Sjogren syndrome HP:0000252 OMIM:248800 IEA P HPO:iea[2009-02-17] +OMIM:301006 Galloway-Mowat syndrome 2, X-linked HP:0000252 OMIM:301006 IEA P HPO:skoehler[2019-04-18] +OMIM:618065 Pontocerebellar hypoplasia, type 1D HP:0000252 PMID:29727687 PCS 1/3 P HPO:skoehler[2018-10-08];HPO:probinson[2022-06-26] +OMIM:223800 Dyggve-Melchior-Clausen disease HP:0000252 OMIM:223800 TAS P HPO:probinson[2009-02-17] +OMIM:618973 Neurodegeneration, infantile-onset, biotin-responsive HP:0000252 PMID:27904971;PMID:31754459 PCS 3/3 P HPO:probinson[2020-09-11] +OMIM:113620 Branchiooculofacial syndrome HP:0000252 OMIM:113620 TAS P HPO:iea[2009-02-17] +OMIM:618862 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures HP:0000252 PMID:32220291 PCS HP:0011461 1/4 P HPO:probinson[2020-09-03];HPO:probinson[2020-09-03] +OMIM:618862 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures HP:0000252 PMID:32220291 PCS 4/4 P HPO:probinson[2020-09-03] +OMIM:613406 Witteveen-Kolk syndrome HP:0000252 PMID:33437032;PMID:27399968 PCS 19/41 P HPO:iea[2012-04-24];HPO:probinson[2022-08-27];HPO:probinson[2022-08-27] +OMIM:617228 Combined oxidative phosphorylation deficiency 31 HP:0000252 OMIM:617228 TAS HP:0040283 P HPO:skoehler[2017-07-13] +OMIM:225750 Aicardi-Goutieres syndrome 1 HP:0000252 PMID:17357087;PMID:20799324 PCS 2/2 P HPO:probinson[2021-09-05];HPO:probinson[2020-11-27] +OMIM:619184 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies HP:0000252 PMID:33308444 PCS 9/13 P HPO:probinson[2021-04-27] +OMIM:614814 Adams-Oliver syndrome 3 HP:0000252 PMID:22883147 PCS 2/6 P HPO:skoehler[2012-10-17];HPO:probinson[2022-09-11] +OMIM:613805 Meier-Gorlin syndrome 5 HP:0000252 PMID:21358632 PCS 1/1 P HPO:skoehler[2012-10-17];HPO:probinson[2022-03-26] +OMIM:300352 Cerebral creatine deficiency syndrome 1 HP:0000252 PMID:27408820 PCS 2/3 P HPO:iea[2009-02-17];HPO:probinson[2022-03-09] +OMIM:618470 Intellectual developmental disorder with severe speech and ambulation defects HP:0000252 PMID:31031012 PCS 2/10 P HPO:skoehler[2019-09-07];HPO:probinson[2022-11-09] +OMIM:301043 Holoprosencephaly 13, X-linked HP:0000252 PMID:31334757 PCS 8/11 P HPO:probinson[2020-09-02] +OMIM:257910 Oculopalatocerebral syndrome HP:0000252 OMIM:257910 IEA P HPO:iea[2009-02-17] +OMIM:617302 Optic atrophy 11 HP:0000252 OMIM:617302 TAS P HPO:skoehler[2017-07-13] +OMIM:617520 Microcephaly 18, primary, autosomal dominant HP:0000252 OMIM:617520 TAS P HPO:nvasilevsky[2019-02-25] +OMIM:615966 Immunodeficiency 26 with or without neurologic abnormalities HP:0000252 OMIM:615966 TAS P HPO:skoehler[2014-11-26] +OMIM:609056 Salt and pepper developmental regression syndrome HP:0000252 OMIM:609056 TAS HP:0040283 P HPO:skoehler[2014-08-24] +OMIM:617050 Hermansky-Pudlak syndrome 10 HP:0000252 PMID:26744459 PCS HP:0003577 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2020-10-28] +OMIM:308830 Keratosis follicularis, dwarfism, and cerebral atrophy HP:0000252 OMIM:308830 PCS P HPO:probinson[2009-02-17] +OMIM:206900 Microphthalmia, syndromic 3 HP:0000252 OMIM:206900 IEA P HPO:iea[2009-02-17] +OMIM:617052 Bone marrow failure syndrome 3 HP:0000252 OMIM:617052 TAS HP:0040283 P HPO:skoehler[2017-07-13] +OMIM:278730 Xeroderma pigmentosum, complementation group D HP:0000252 OMIM:278730 IEA P HPO:iea[2009-02-17] +OMIM:618665 Intellectual developmental disorder, autosomal recessive 72 HP:0000252 PMID:31564433 PCS 7/7 P HPO:probinson[2020-06-25] +OMIM:618336 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency HP:0000252 OMIM:618336 IEA P HPO:skoehler[2019-04-18] +OMIM:618622 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies HP:0000252 PMID:31495489 PCS 15/21 P HPO:probinson[2020-06-27] +OMIM:301900 Borjeson-Forssman-Lehmann syndrome HP:0000252 OMIM:301900 IEA P HPO:iea[2009-02-17] +OMIM:300966 Mental retardation, X-linked, syndromic 33 HP:0000252 PMID:26637982 PCS 7/11 P HPO:probinson[2017-06-17] +OMIM:608093 Congenital disorder of glycosylation, type Ij HP:0000252 OMIM:608093 IEA P HPO:iea[2009-02-17] +OMIM:602342 Pierpont syndrome HP:0000252 OMIM:602342 TAS P HPO:skoehler[2012-10-16] +OMIM:619576 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects HP:0000252 PMID:34089229 PCS 2/2 P HPO:probinson[2021-11-27] +OMIM:309500 Renpenning syndrome HP:0000252 PMID:15782410 PCS 38/44 P HPO:iea[2009-02-17];HPO:probinson[2020-08-09] +OMIM:616462 Acrofacial dysostosis, Cincinnati type HP:0000252 PMID:25913037 PCS 1/3 P HPO:skoehler[2015-08-16];HPO:probinson[2022-09-24] +OMIM:619517 Neurodevelopmental disorder with seizures and brain abnormalities HP:0000252 PMID:34186028 PCS 4/4 P HPO:probinson[2021-10-31] +OMIM:618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia HP:0000252 PMID:31668703 PCS 5/14 P HPO:probinson[2020-05-11] +OMIM:133540 Cockayne syndrome, type B HP:0000252 PMID:18446857 PCS 3/3 P HPO:iea[2009-02-17];HPO:probinson[2022-04-05] +OMIM:620028 Developmental and epileptic encephalopathy 106 HP:0000252 PMID:33473208 PCS 2/8 P HPO:probinson[2022-10-03] +OMIM:615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) HP:0000252 OMIM:615471 TAS HP:0040283 P HPO:skoehler[2013-11-18] +OMIM:253280 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 HP:0000252 OMIM:253280 TAS P HPO:skoehler[2012-10-17] +OMIM:600901 Fanconi anemia, complementation group E HP:0000252 OMIM:600901 IEA P HPO:iea[2009-02-17] +OMIM:148050 KBG syndrome HP:0000252 OMIM:148050 IEA P HPO:iea[2009-02-17] +OMIM:613451 Frontonasal dysplasia 2 HP:0000252 PMID:19692347 PCS 1/2 P HPO:skoehler[2015-07-26];HPO:probinson[2022-05-08] +OMIM:614105 Methylmalonate semialdehyde dehydrogenase deficiency HP:0000252 OMIM:614105 TAS P HPO:skoehler[2015-08-16] +OMIM:314580 Wieacker-Wolff syndrome HP:0000252 PMID:31206972 PCS P HPO:skoehler[2017-07-13];HPO:probinson[2020-07-25] +OMIM:619680 Marbach-Schaaf neurodevelopmental syndrome HP:0000252 PMID:33833410 PCS 1/6 P HPO:probinson[2022-02-19] +OMIM:609654 Short stature and facioauriculothoracic malformations HP:0000252 OMIM:609654 IEA P HPO:iea[2009-02-17] +OMIM:300519 Mental retardation, X-linked, syndromic, Martin-Probst type HP:0000252 PMID:11073537 PCS 2/3 P HPO:skoehler[2012-10-14];HPO:probinson[2020-10-20] +OMIM:192430 Velocardiofacial syndrome HP:0000252 OMIM:192430 IEA P HPO:iea[2009-02-17] +OMIM:617804 Neurodevelopmental disorder with severe motor impairment and absent language HP:0000252 PMID:29100085 PCS P HPO:skoehler[2019-04-18];HPO:probinson[2022-12-17] +OMIM:613684 Rubinstein-Taybi syndrome 2 HP:0000252 PMID:17220215 PCS 3/3 P HPO:skoehler[2012-10-17];HPO:probinson[2022-10-13] +DECIPHER:1 Wolf-Hirschhorn syndrome HP:0000252 DECIPHER:1 IEA P HPO:skoehler[2013-05-29] +DECIPHER:45 Xq28 (MECP2) duplication HP:0000252 PMID:17088400 PCS male P HPO:iea[2010-09-15] +OMIM:619321 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies HP:0000252 PMID:29851065 PCS 4/4 P HPO:probinson[2021-07-03] +OMIM:617694 Al Kaissi syndrome HP:0000252 OMIM:617694 IEA P HPO:skoehler[2019-04-18] +OMIM:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 HP:0000252 OMIM:604273 IEA 1/1 P HPO:skoehler[2010-06-19];HPO:probinson[2022-08-21] +OMIM:618165 Bone marrow failure syndrome 5 HP:0000252 PMID:30146126 PCS 2/2 P HPO:skoehler[2019-04-18];HPO:probinson[2022-12-22] +OMIM:616202 Cerebellofaciodental syndrome HP:0000252 PMID:25561519 PCS 6/6 P HPO:skoehler[2015-02-22];HPO:probinson[2022-05-08] +OMIM:249000 Meckel syndrome 1 HP:0000252 OMIM:249000 IEA P HPO:iea[2009-02-17] +OMIM:202900 Alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus HP:0000252 OMIM:202900 IEA P HPO:iea[2009-02-17] +OMIM:618596 Epilepsy, idiopathic generalized, susceptibility to, 16 HP:0000252 PMID:29330545 PCS 1/2 P HPO:probinson[2020-07-11];HPO:probinson[2020-07-11] +OMIM:608716 Microcephaly 5, primary, autosomal recessive HP:0000252 PMID:16673149 PCS 6/6 P HPO:probinson[2009-02-17];HPO:probinson[2022-06-23] +OMIM:619648 Zaki syndrome HP:0000252 PMID:34587386 PCS 9/9 P HPO:probinson[2022-02-20] +OMIM:217980 Corpus callosum, agenesis of, with facial anomalies and Robin sequence HP:0000252 OMIM:217980 TAS P HPO:skoehler[2015-12-30] +OMIM:620005 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome HP:0000252 PMID:33060134 PCS 5/5 P HPO:probinson[2022-08-28] +OMIM:138770 Gms syndrome HP:0000252 OMIM:138770 IEA P HPO:iea[2009-02-17] +OMIM:606232 Phelan-Mcdermid syndrome HP:0000252 PMID:20301377 PCS HP:0040284 P HPO:iea[2012-04-24];HPO:probinson[2019-11-28] +OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities HP:0000252 PMID:34211179 PCS 5/21 P HPO:probinson[2021-10-05] +OMIM:164220 Schilbach-Rott syndrome HP:0000252 OMIM:164220 TAS P HPO:skoehler[2012-10-17] +OMIM:616311 Intellectual developmental disorder, autosomal dominant 33 HP:0000252 PMID:23832105 PCS HP:0003577 6/6 P HPO:skoehler[2015-09-16];HPO:probinson[2020-07-22] +OMIM:608540 Congenital disorder of glycosylation, type Ik HP:0000252 OMIM:608540 IEA P HPO:iea[2009-02-17] +OMIM:241800 Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included HP:0000252 PMID:30497210 PCS 1/2 P HPO:probinson[2022-10-24] +OMIM:611890 Congenital arthrogryposis with anterior horn cell disease HP:0000252 OMIM:611890 IEA HP:0040284 P HPO:skoehler[2019-04-18] +OMIM:615599 Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity HP:0000252 PMID:21937992 PCS 2/2 P HPO:skoehler[2014-02-06];HPO:probinson[2022-03-15] +OMIM:619743 Combined oxidative phosphorylation deficiency 55 HP:0000252 PMID:33602924 PCS 2/8 P HPO:probinson[2022-04-19] +OMIM:309800 Microphthalmia, syndromic 1 HP:0000252 OMIM:309800 IEA P HPO:iea[2009-02-17] +OMIM:236795 3-hydroxyisobutyric aciduria HP:0000252 OMIM:236795 IEA P HPO:iea[2009-02-17] +OMIM:309555 Mental retardation with optic atrophy, deafness, and seizures HP:0000252 OMIM:309555 IEA P HPO:iea[2009-02-17] +OMIM:246450 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency HP:0000252 OMIM:246450 IEA HP:0040284 P HPO:skoehler[2019-04-18] +OMIM:615440 Combined oxidative phosphorylation deficiency 17 HP:0000252 OMIM:615440 TAS HP:0040283 P HPO:skoehler[2013-10-22] +OMIM:188400 Digeorge syndrome HP:0000252 PMID:16208694 PCS 5/78 P HPO:probinson[2022-03-17] +OMIM:619981 Braddock-Carey syndrome 2 HP:0000252 PMID:28150392 PCS 1/1 P HPO:probinson[2022-08-17] +OMIM:619244 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism HP:0000252 PMID:32439809 PCS 6/11 P HPO:probinson[2022-02-27] +OMIM:607906 Congenital disorder of glycosylation, type Ii HP:0000252 PMID:33644825 PCS 2/3 P HPO:probinson[2022-06-15] +OMIM:617660 Vertebral, cardiac, renal, and limb defects syndrome 1 HP:0000252 PMID:28792876 PCS 2/2 P HPO:skoehler[2019-04-18];HPO:probinson[2022-08-23] +OMIM:266265 Congenital disorder of glycosylation, type IIc HP:0000252 OMIM:266265 IEA P HPO:iea[2009-02-17] +OMIM:615352 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 HP:0000252 PMID:23768512 PCS 2/3 P HPO:skoehler[2013-10-06];HPO:probinson[2022-12-13] +OMIM:614607 Coffin-Siris syndrome 2 HP:0000252 PMID:22426308 PCS 1/3 P HPO:probinson[2022-07-02];HPO:probinson[2022-07-02] +OMIM:614563 Intellectual developmental disorder, autosomal dominant 13 HP:0000252 PMID:21076407 PCS 3/8 P HPO:skoehler[2013-10-06];HPO:probinson[2022-05-30] +OMIM:613078 Nijmegen breakage syndrome-like disorder HP:0000252 PMID:19409520 PCS HP:0003577 1/1 P HPO:probinson[2013-01-09];HPO:probinson[2020-07-21] +OMIM:278250 Wrinkly skin syndrome HP:0000252 OMIM:278250 IEA P HPO:iea[2009-02-17] +OMIM:603467 Fanconi anemia, complementation group F HP:0000252 PMID:31288759;PMID:27714961 PCS 2/4 P HPO:probinson[2021-07-05];HPO:probinson[2020-07-22];HPO:probinson[2020-07-22] +OMIM:615673 Myopathy with extrapyramidal signs HP:0000252 PMID:24336167 PCS 5/15 P HPO:skoehler[2017-07-13];HPO:probinson[2021-10-18] +OMIM:617938 Developmental and epileptic encephalopathy 62 HP:0000252 PMID:29466837 PCS 1/6 P HPO:skoehler[2019-04-18];HPO:probinson[2021-02-18] +OMIM:616541 Short stature, microcephaly, and endocrine dysfunction HP:0000252 PMID:25728776 PCS HP:0003577 5/5 P HPO:skoehler[2015-12-30];HPO:probinson[2020-09-12] +OMIM:107480 Townes-Brocks syndrome 1 HP:0000252 OMIM:107480 IEA P HPO:iea[2009-02-17] +OMIM:610204 Pontocerebellar hypoplasia, type 5 HP:0000252 OMIM:610204 TAS P HPO:skoehler[2009-02-17] +OMIM:612952 Aicardi-Goutieres syndrome 5 HP:0000252 OMIM:612952 TAS HP:0040283 P HPO:skoehler[2017-07-13] +OMIM:608363 Chromosome 22q11.2 duplication syndrome HP:0000252 OMIM:608363 IEA P HPO:skoehler[2010-06-19] +OMIM:615905 Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta HP:0000252 OMIM:615905 TAS P HPO:skoehler[2015-12-30] +OMIM:117650 Cerebrocostomandibular syndrome HP:0000252 OMIM:117650 TAS P HPO:probinson[2009-02-17] +OMIM:187395 Teratocarcinoma-Derived growth factor 1 HP:0000252 PMID:12073012 IEA P HPO:probinson[2015-05-08] +OMIM:305000 Dyskeratosis congenita, X-linked HP:0000252 OMIM:305000 TAS P HPO:skoehler[2013-09-30] +OMIM:616920 Heart and brain malformation syndrome HP:0000252 PMID:27018474 PCS 1/2 P HPO:skoehler[2017-07-13];HPO:probinson[2022-08-27] +OMIM:615010 Aicardi-Goutieres syndrome 6 HP:0000252 PMID:23001123 PCS 5/14 P HPO:skoehler[2014-05-04];HPO:probinson[2022-12-10] +OMIM:220120 D-glyceric aciduria HP:0000252 PMID:20949620 PCS 1/3 P HPO:skoehler[2012-10-17];HPO:probinson[2022-09-25] +OMIM:614852 Microcephaly 9, primary, autosomal recessive HP:0000252 PMID:20598275;PMID:22775483 PCS 5/5 P HPO:probinson[2022-10-08];HPO:skoehler[2013-06-12];HPO:probinson[2022-10-08] +OMIM:619055 Mitochondrial complex IV deficiency, nuclear type 12 HP:0000252 PMID:24462369 PCS 1/10 P HPO:probinson[2020-12-06] +OMIM:600252 Lowry-Maclean syndrome HP:0000252 OMIM:600252 IEA P HPO:iea[2009-02-17] +OMIM:611523 Pontocerebellar hypoplasia, type 6 HP:0000252 PMID:17847012 PCS 1/3 P HPO:skoehler[2012-11-20];HPO:probinson[2022-10-21] +OMIM:619025 Combined oxidative phosphorylation deficiency 50 HP:0000252 PMID:31039582 PCS 1/1 P HPO:probinson[2020-11-30] +OMIM:610442 Spondyloepimetaphyseal dysplasia, Genevieve type HP:0000252 OMIM:610442 IEA P HPO:iea[2009-02-17] +OMIM:619487 Aicardi-Goutieres syndrome 9 HP:0000252 PMID:33230297 PCS 3/16 P HP:probinson[2021-10-17] +OMIM:615412 Cortical dysplasia, complex, with other brain malformations 4 HP:0000252 PMID:23603762 PCS 2/3 P HPO:skoehler[2013-10-06];HPO:probinson[2022-09-08] +OMIM:610883 Potocki-Lupski syndrome HP:0000252 PMID:17357070 PCS P HPO:iea[2010-09-09] +OMIM:615597 Congenital disorder of glycosylation, type Ix HP:0000252 PMID:23842455 PCS 1/1 P HPO:skoehler[2014-02-06];HPO:probinson[2022-03-27] +OMIM:243800 Johanson-Blizzard syndrome HP:0000252 OMIM:243800 PCS P HPO:iea[2009-02-17] +OMIM:614959 Epileptic encephalopathy, early infantile, 14 HP:0000252 OMIM:614959 TAS P HPO:skoehler[2012-12-30] +OMIM:619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant HP:0000252 PMID:32738225 PCS 6/8 P HPO:probinson[2020-12-22] +OMIM:616486 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities HP:0000252 PMID:26005868 PCS 3/3 P HPO:skoehler[2015-12-30];HPO:probinson[2022-08-27] +OMIM:614458 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) HP:0000252 PMID:22152682 PCS 1/5 P HPO:probinson[2022-08-27] +OMIM:613612 Congenital disorder of glycosylation, type IIi HP:0000252 PMID:23228021 PCS 6/7 P HPO:probinson[2020-08-11] +OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome HP:0000252 PMID:19764020 PCS 0/4 P HPO:probinson[2022-11-06] +OMIM:617935 Epilepsy, familial focal, with variable foci 4 HP:0000252 PMID:24157691;PMID:28235671 PCS 1/5 P HPO:skoehler[2019-04-18];HPO:probinson[2022-10-02];HPO:probinson[2022-10-02];HPO:probinson[2022-10-02] +OMIM:300534 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type HP:0000252 PMID:18697827;PMID:19826449;PMID:31419599;PMID:21575681 PCS 7/20 P HPO:probinson[2012-04-25];HPO:probinson[2021-09-25];HPO:probinson[2022-08-23];HPO:probinson[2022-08-23] +OMIM:210710 Microcephalic osteodysplastic primordial dwarfism, type I HP:0000252 PMID:21474761 PCS 10/10 P HPO:probinson[2009-02-17];HPO:probinson[2022-12-04] +OMIM:616364 White-Sutton syndrome HP:0000252 PMID:26739615;PMID:26942287 PCS 14/29 P HPO:skoehler[2017-07-13];HPO:probinson[2022-04-12];HPO:probinson[2022-04-12] +OMIM:600987 Cleft palate, cardiac defects, and mental retardation HP:0000252 OMIM:600987 IEA P HPO:iea[2009-02-17] +OMIM:615411 Cortical dysplasia, complex, with other brain malformations 3 HP:0000252 OMIM:615411 TAS P HPO:skoehler[2013-10-06] +OMIM:619602 Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies HP:0000252 PMID:31608932 PCS 4/4 P HPO:probinson[2022-02-03] +OMIM:121070 Arthrogryposis, distal, type 2E HP:0000252 OMIM:121070 TAS HP:0012825 P HPO:probinson[2010-06-20] +OMIM:617800 Microcephaly 19, primary, autosomal recessive HP:0000252 PMID:29036432 PCS 2/2 P HPO:nvasilevsky[2019-02-25];HPO:probinson[2022-06-22] +OMIM:248760 Marfanoid habitus with microcephaly and glomerulonephritis HP:0000252 OMIM:248760 IEA P HPO:iea[2009-02-17] +OMIM:614347 Mental retardation, autosomal recessive 28 HP:0000252 OMIM:614347 TAS P HPO:skoehler[2017-07-13] +OMIM:619228 Developmental delay with dysmorphic facies and dental anomalies HP:0000252 PMID:33513338 PCS 7/31 P HPO:probinson[2021-05-14] +OMIM:614576 Congenital disorder of glycosylation, type IIl HP:0000252 PMID:26260076 PCS 7/8 P HPO:skoehler[2014-01-28];HPO:probinson[2020-09-12] +OMIM:212720 Martsolf syndrome 1 HP:0000252 PMID:17515302;PMID:16532399 PCS 3/4 P HPO:probinson[2022-04-22];HPO:skoehler[2009-02-17];HPO:probinson[2021-07-10] +OMIM:300957 Mental retardation, X-linked 12/35 HP:0000252 PMID:32116545 PCS 13/38 P HPO:skoehler[2015-11-15];HPO:probinson[2020-08-02] +OMIM:614701 Cornelia de Lange syndrome 4 HP:0000252 PMID:31334757;PMID:22633399 PCS 4/4 P HPO:probinson[2021-10-19];HPO:skoehler[2012-10-17];HPO:probinson[2021-10-19] +OMIM:612541 Neutropenia, severe congenital, 4, autosomal recessive HP:0000252 PMID:19118303 PCS 2/12 P HPO:skoehler[2010-06-20];HPO:probinson[2022-07-11] +DECIPHER:4 Angelman syndrome (Type 1) HP:0000252 DECIPHER:4 IEA P HPO:skoehler[2013-05-29] +DECIPHER:62 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) HP:0000252 DECIPHER:62 IEA P HPO:skoehler[2013-05-29] +OMIM:618103 Intellectual developmental disorder, autosomal recessive 64 HP:0000252 PMID:28837161 PCS 4/5 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-18] +OMIM:610543 Chromosome 16p13.3 deletion syndrome HP:0000252 PMID:16783566;PMID:17855048 PCS P HPO:iea[2012-04-24] +OMIM:257300 Mosaic variegated aneuploidy syndrome 1 HP:0000252 PMID:15475955 PCS 9/9 HP:0012828 P HPO:probinson[2009-02-17];HPO:probinson[2022-11-01] +OMIM:619151 AMED syndrome, digenic HP:0000252 PMID:33355142 PCS 6/7 P HPO:probinson[2021-03-05] +OMIM:303600 Coffin-Lowry syndrome HP:0000252 OMIM:303600 IEA P HPO:iea[2009-02-17] +OMIM:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked HP:0000252 PMID:33523931 PCS 5/10 P HPO:probinson[2021-05-02];HPO:probinson[2021-05-02] +OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1 HP:0000252 PMID:10944442 PCS 1/2 P HPO:skoehler[2019-04-18];HPO:probinson[2021-08-18] +OMIM:308205 IFAP syndrome with or without BRESHECK syndrome HP:0000252 PMID:19361614 PCS 1/13 MALE P HPO:probinson[2012-07-15] +OMIM:235730 Mowat-Wilson syndrome HP:0000252 PMID:17958891;PMID:29300384 PCS 379/480 P HPO:lccarmody[2018-09-27];HPO:lccarmody[2018-09-27];HPO:lccarmody[2018-09-27];HPO:iea[2009-02-17] +OMIM:211910 Camptodactyly syndrome, guadalajara, type I HP:0000252 OMIM:211910 IEA P HPO:iea[2009-02-17] +OMIM:300934 Congenital disorder of glycosylation, type Iy HP:0000252 PMID:26264460 PCS 9/9 P HPO:skoehler[2015-01-04];HPO:probinson[2021-02-25] +OMIM:217990 Corpus callosum, agenesis of HP:0000252 OMIM:217990 IEA P HPO:iea[2009-02-17] +OMIM:615917 Combined oxidative phosphorylation deficiency 20 HP:0000252 OMIM:615917 TAS P HPO:skoehler[2014-08-24] +OMIM:618371 Turnpenny-Fry syndrome HP:0000252 OMIM:618371 IEA P HPO:skoehler[2019-09-07] +OMIM:616579 Intellectual developmental disorder, autosomal dominant 40 HP:0000252 PMID:26340335 PCS 2/5 P HPO:skoehler[2015-11-15];HPO:probinson[2022-06-09] +OMIM:618004 Epileptic encephalopathy, early infantile, 64 HP:0000252 OMIM:618004 IEA HP:0040284 P HPO:skoehler[2019-04-18] +OMIM:312080 Pelizaeus-Merzbacher disease HP:0000252 PMID:29486744 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2022-03-23] +OMIM:614249 Mental retardation, autosomal recessive 18 HP:0000252 PMID:21868677 PCS 0/5 P HPO:probinson[2022-04-04] +OMIM:614739 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome HP:0000252 OMIM:614739 TAS HP:0040283 P HPO:skoehler[2017-07-13] +OMIM:619418 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2 HP:0000252 PMID:30304524 PCS 7/7 P HPO:probinson[2021-08-22] +OMIM:611943 Riddle syndrome HP:0000252 OMIM:611943 TAS HP:0040283 P HPO:skoehler[2014-08-24] +OMIM:252160 Molybdenum cofactor deficiency, complementation group B HP:0000252 PMID:16021469 PCS 1/1 P HPO:skoehler[2014-01-28];HPO:probinson[2022-11-08] +OMIM:617188 Mental retardation, autosomal recessive 57 HP:0000252 PMID:27616480 PCS 3/16 P HPO:skoehler[2017-07-13];HPO:probinson[2022-03-03] +OMIM:617090 Microcephaly 17, primary, autosomal recessive HP:0000252 OMIM:617090 TAS P HPO:skoehler[2017-07-13] +OMIM:612079 Alopecia, neurologic defects, and endocrinopathy syndrome HP:0000252 PMID:18439547 PCS 3/5 P HPO:skoehler[2010-06-19];HPO:probinson[2022-11-12] +OMIM:613398 Warsaw breakage syndrome HP:0000252 OMIM:613398 TAS P HPO:skoehler[2012-10-17] +OMIM:620071 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss HP:0000252 PMID:35861243 PCS 3/3 HP:0012827 P HPO:probinson[2022-12-04] +OMIM:618347 Galloway-Mowat syndrome 6 HP:0000252 PMID:28617965;PMID:29597095;PMID:30079490 PCS 7/7 P HPO:probinson[2022-03-11];HPO:skoehler[2019-04-18];HPO:probinson[2022-03-11] +OMIM:530000 Kearns-Sayre syndrome HP:0000252 OMIM:530000 IEA P HPO:iea[2009-02-17] +OMIM:619072 Neurodevelopmental disorder with seizures and brain atrophy HP:0000252 PMID:32103185 PCS 2/8 P HPO:probinson[2021-01-01];HPO:probinson[2021-01-01] +OMIM:260600 Leukodystrophy, hypomyelinating, 3 HP:0000252 OMIM:260600 TAS P HPO:skoehler[2012-10-17] +OMIM:613661 Congenital disorder of glycosylation, type Ip HP:0000252 PMID:20080937 PCS 1/2 P HPO:skoehler[2015-07-26];HPO:probinson[2023-01-26] +OMIM:249630 Mental retardation, buenos Aires type HP:0000252 OMIM:249630 IEA P HPO:iea[2009-02-17] +OMIM:241410 Hypoparathyroidism-retardation-dysmorphism syndrome HP:0000252 OMIM:241410 IEA P HPO:iea[2009-02-17] +OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities HP:0000252 PMID:33909990 PCS 1/29 P HPO:probinson[2022-02-04];HPO:probinson[2022-02-04] +OMIM:617903 Neurodevelopmental disorder with poor language and loss of hand skills HP:0000252 OMIM:617903 IEA P HPO:skoehler[2018-10-08] +OMIM:618116 Bone marrow failure syndrome 4 HP:0000252 OMIM:618116 IEA HP:0040284 P HPO:skoehler[2019-04-18] +OMIM:182212 Shprintzen-Goldberg craniosynostosis syndrome HP:0000252 PMID:15884042 PCS 6/37 P HPO:iea[2009-02-17] +OMIM:266920 Short-rib thoracic dysplasia 9 with or without polydactyly HP:0000252 PMID:22503633 PCS 3/11 P HPO:skoehler[2012-11-18];HPO:probinson[2022-05-28] +OMIM:272950 Teebi-Shaltout syndrome HP:0000252 OMIM:272950 TAS HP:0040283 P HPO:skoehler[2017-07-13] +OMIM:245348 Pyruvate dehydrogenase E2 deficiency HP:0000252 OMIM:245348 IEA P HPO:iea[2009-02-17] +OMIM:613823 Seckel syndrome 5 HP:0000252 PMID:21131973 PCS P HPO:probinson[2013-08-10] +OMIM:133750 Extrasystoles, multiform ventricular, with short stature, hyperpigmentationand microcephaly HP:0000252 OMIM:133750 IEA P HPO:iea[2009-02-17] +OMIM:612940 Cutis laxa, autosomal recessive, type IIB HP:0000252 PMID:19576563 PCS 4/4 P HPO:skoehler[2010-06-19];HPO:probinson[2022-08-10] +OMIM:602398 DESMOSTEROLOSIS HP:0000252 PMID:12457401 PCS 1/2 P HPO:iea[2012-04-24] +OMIM:618569 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly HP:0000252 PMID:31363758 PCS P HPO:probinson[2020-06-14] +OMIM:619356 Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome HP:0000252 PMID:33386993 PCS 1/2 P HPO:probinson[2021-08-20] +OMIM:615919 Ataxia-Telangiectasia-Like disorder 2 HP:0000252 OMIM:615919 TAS HP:0040283 P HPO:skoehler[2014-08-24] +OMIM:617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies HP:0000252 PMID:27964749 PCS 2/4 P HPO:skoehler[2017-07-13];HPO:probinson[2022-09-26] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000252 OMIM:616603 TAS P HPO:skoehler[2015-11-15] +OMIM:300867 Kabuki syndrome 2 HP:0000252 PMID:23913813 PCS 2/4 P HPO:skoehler[2012-10-16];HP:probinson[2019-01-20] +OMIM:305600 Focal dermal hypoplasia HP:0000252 OMIM:305600 IEA P HPO:iea[2009-02-17] +OMIM:213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome HP:0000252 OMIM:213980 TAS HP:0040283 P HPO:skoehler[2014-06-24] +OMIM:212540 Cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome HP:0000252 OMIM:212540 IEA P HPO:iea[2009-02-17] +OMIM:611107 Intellectual developmental disorder, autosomal recessive 4 HP:0000252 OMIM:611107 TAS P HPO:skoehler[2017-07-13] +OMIM:618356 Neurodevelopmental disorder with central and peripheral motor dysfunction HP:0000252 OMIM:618356 IEA HP:0040284 P HPO:skoehler[2019-04-18] +OMIM:609029 Emanuel syndrome HP:0000252 OMIM:609029 IEA P HPO:iea[2009-02-17] +OMIM:608747 Insulin-Like growth factor I deficiency HP:0000252 PMID:8857020 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2022-11-25] +OMIM:300578 Chromosome xp11.3 deletion syndrome HP:0000252 PMID:7977353 PCS P HPO:iea[2009-02-17];HPO:probinson[2022-04-10] +OMIM:616368 CHOPS syndrome HP:0000252 PMID:25730767 PCS 1/3 P HPO:probinson[2022-09-22] +OMIM:619827 Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly HP:0000252 PMID:33414379 PCS 1/12 P HPO:probinson[2022-07-17] +OMIM:619934 Intellectual developmental disorder, autosomal dominant 68 HP:0000252 PMID:33150406;PMID:29276005 PCS 7/8 P HPO:probinson[2022-08-20] +OMIM:618890 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity HP:0000252 PMID:29090338 PCS 1/1 P HPO:probinson[2020-08-13];HPO:probinson[2020-08-13] +OMIM:617093 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy HP:0000252 OMIM:617093 TAS P HPO:skoehler[2017-07-13] +OMIM:618379 Developmental and epileptic encephalopathy 73 HP:0000252 PMID:30595371 PCS P HPO:skoehler[2019-04-18];HPO:probinson[2021-02-16] +OMIM:300978 Tonne-Kalscheuer syndrome HP:0000252 OMIM:300978 TAS P HPO:skoehler[2017-07-13] +OMIM:241000 Hypogonadism with low-grade mental deficiency and microcephaly HP:0000252 OMIM:241000 TAS P HPO:probinson[2009-02-17] +OMIM:152950 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation HP:0000252 OMIM:152950 IEA P HPO:iea[2009-02-17] +OMIM:617493 Neurodevelopmental disorder with involuntary movements HP:0000252 OMIM:617493 IEA HP:0040284 P HPO:skoehler[2018-10-08] +OMIM:611726 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions HP:0000252 PMID:22748208 PCS 2/2 P HPO:skoehler[2012-12-03];HPO:probinson[2021-06-26] +OMIM:208400 Aspartylglucosaminuria HP:0000252 OMIM:208400 IEA P HPO:iea[2009-02-17] +OMIM:257320 Lissencephaly 2 HP:0000252 PMID:10973257 PCS P HPO:iea[2009-02-17];HP:probinson[2019-04-09] +OMIM:617899 Leukodystrophy, hypomyelinating, 14 HP:0000252 OMIM:617899 IEA P HPO:skoehler[2019-04-18] +OMIM:619489 Short stature, Dauber-Argente type HP:0000252 PMID:26902202;PMID:34272725 PCS 7/7 P HPO:probinson[2021-10-04];HPO:probinson[2021-10-04];HPO:probinson[2021-10-04] +OMIM:606220 Intellectual developmental disorder with short stature, facial anomalies, and speech defects HP:0000252 PMID:30481285 PCS 1/6 P HPO:skoehler[2019-09-07];HPO:probinson[2022-09-11] +OMIM:618426 Encephalopathy, acute, infection-induced, susceptibility to, 9 HP:0000252 PMID:30758658 PCS 3/3 P HPO:skoehler[2019-09-07];HPO:probinson[2022-12-20] +OMIM:612947 Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance HP:0000252 OMIM:612947 IEA P HPO:skoehler[2010-06-19] +OMIM:304100 Corpus callosum, partial agenesis of, X-linked HP:0000252 OMIM:304100 IEA P HPO:iea[2009-02-17] +OMIM:619227 Vertebral, cardiac, tracheoesophageal, renal, and limb defects HP:0000252 PMID:33276377 PCS 1/9 P HPO:probinson[2021-05-27];HPO:probinson[2021-05-27] +OMIM:616281 Neurodevelopmental disorder with microcephaly and spastic paraplegia HP:0000252 PMID:27601654;PMID:25758935 PCS 16/17 P HPO:probinson[2022-04-12];HPO:skoehler[2015-09-16];HPO:probinson[2022-04-12] +OMIM:614342 Mental retardation, autosomal recessive 30 HP:0000252 OMIM:614342 TAS P HPO:skoehler[2017-07-13] +OMIM:616756 Spastic paraplegia and psychomotor retardation with or without seizures HP:0000252 OMIM:616756 TAS HP:0040283 P HPO:skoehler[2017-07-13] +OMIM:114100 Basal ganglia calcification, idiopathic, childhood-onset HP:0000252 OMIM:114100 IEA P HPO:iea[2009-02-17] +OMIM:226980 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus HP:0000252 OMIM:226980 TAS P HPO:probinson[2009-02-17] +OMIM:277400 Methylmalonic aciduria and homocystinuria, Cblc type HP:0000252 OMIM:277400 IEA P HPO:iea[2009-02-17] +OMIM:618266 Pontocerebellar hypoplasia, type 12 HP:0000252 OMIM:618266 IEA P HPO:skoehler[2019-04-18] +OMIM:620038 Neurodevelopmental disorder with microcephaly, hypotonia, and absent language HP:0000252 PMID:32129449 PCS 2/2 P HPO:probinson[2022-10-03] +OMIM:616834 Microcephaly, congenital cataract, and psoriasiform dermatitis HP:0000252 PMID:21285510 PCS 1/1 P HPO:probinson[2017-06-17];HPO:probinson[2022-03-08] +OMIM:227646 Fanconi anemia, complementation group D2 HP:0000252 PMID:17436244 PCS 25/28 P HPO:iea[2009-02-17];HPO:probinson[2020-11-28] +OMIM:617982 Ververi-Brady syndrome HP:0000252 PMID:28692176 PCS 1/3 P HPO:skoehler[2019-04-18];HPO:probinson[2021-06-27] +OMIM:233270 Gombo syndrome HP:0000252 OMIM:233270 IEA P HPO:iea[2009-02-17] +OMIM:618325 Lissencephaly 9 with complex brainstem malformation HP:0000252 PMID:30471716 PCS 2/8 P HPO:skoehler[2019-04-18];HPO:probinson[2022-11-10] +OMIM:618766 Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum HP:0000252 PMID:31960134 PCS 4/5 P HPO:probinson[2020-05-11] +OMIM:244450 Kaufman oculocerebrofacial syndrome HP:0000252 PMID:23200864 PCS P HPO:iea[2009-02-17] +OMIM:135900 Coffin-Siris syndrome 1 HP:0000252 OMIM:135900 IEA P HPO:iea[2009-02-17] +OMIM:615330 Multiple mitochondrial dysfunctions syndrome 3 HP:0000252 OMIM:615330 TAS P HPO:skoehler[2013-09-10] +OMIM:618142 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome HP:0000252 PMID:26633546 PCS 3/3 P HPO:skoehler[2019-02-15];HPO:probinson[2022-09-28] +OMIM:312170 Pyruvate dehydrogenase e1-alpha deficiency HP:0000252 OMIM:312170 IEA P HPO:iea[2009-02-17] +OMIM:616651 Roifman syndrome HP:0000252 PMID:26522830 PCS 5/6 P HPO:skoehler[2015-12-30] +OMIM:234250 Hall-Riggs mental retardation syndrome HP:0000252 OMIM:234250 IEA P HPO:iea[2009-02-17] +OMIM:257920 3mc syndrome 1 HP:0000252 OMIM:257920 IEA P HPO:iea[2009-02-17] +OMIM:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset HP:0000252 OMIM:616263 TAS P HPO:skoehler[2015-04-05] +OMIM:612626 Chromosome 15q26-qter deletion syndrome HP:0000252 OMIM:612626 IEA P HPO:skoehler[2010-06-19] +OMIM:618170 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures HP:0000252 PMID:30401461 PCS 3/5 P HPO:probinson[2022-03-21] +OMIM:616549 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism HP:0000252 PMID:25748484 PCS 2/2 P HPO:skoehler[2015-12-30];HPO:probinson[2020-09-12] +OMIM:606812 Fumarase deficiency HP:0000252 OMIM:606812 IEA P HPO:iea[2009-02-17] +OMIM:616817 Microcephaly, short stature, and impaired glucose metabolism 2 HP:0000252 PMID:26159176 PCS P HPO:probinson[2017-06-17] +OMIM:619218 ENDOVE syndrome, limb-brain type HP:0000252 PMID:33568816 PCS 1/1 P HPO:probinson[2021-05-18] +OMIM:618268 Trichohepatoneurodevelopmental syndrome HP:0000252 OMIM:618268 IEA P HPO:skoehler[2019-02-15] +OMIM:156580 Microcephaly, autosomal dominant HP:0000252 OMIM:156580 TAS P HPO:probinson[2012-05-01] +OMIM:616777 Seckel syndrome 9 HP:0000252 PMID:26595769 PCS 3/3 P HPO:probinson[2016-07-03] +OMIM:617977 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures HP:0000252 PMID:28503735 PCS 4/12 P HPO:skoehler[2019-04-18];HPO:probinson[2022-10-30];HPO:probinson[2022-10-30] +OMIM:616835 Meier-Gorlin syndrome 6 HP:0000252 OMIM:616835 IEA P HPO:skoehler[2019-04-18] +OMIM:309400 Menkes disease HP:0000252 OMIM:309400 IEA P HPO:iea[2009-02-17] +OMIM:619087 Noonan syndrome 13 HP:0000252 PMID:32721402 PCS 1/7 P HPO:probinson[2020-12-21] +OMIM:608670 Robin sequence, distinctive facial appearance, and brachydactyly HP:0000252 PMID:15057987 PCS 1/2 P HP:probinson[2022-02-09] +OMIM:601811 Premature aging syndrome, Okamoto type HP:0000252 OMIM:601811 IEA P HPO:iea[2009-02-17] +OMIM:616681 Microcephaly 16, primary, autosomal recessive HP:0000252 OMIM:616681 TAS P HPO:skoehler[2015-12-30] +OMIM:617768 Kleefstra syndrome 2 HP:0000252 OMIM:617768 IEA P HPO:skoehler[2019-04-18] +OMIM:100300 Adams-Oliver syndrome 1 HP:0000252 OMIM:100300 IEA P HPO:iea[2009-02-17] +OMIM:617796 Intellectual developmental disorder, autosomal dominant 52 HP:0000252 PMID:28394464 PCS 1/1 P HPO:probinson[2022-06-03] +OMIM:246900 Dihydrolipoamide dehydrogenase deficiency HP:0000252 OMIM:246900 TAS P HPO:skoehler[2013-04-02] +OMIM:616553 Dyskeratosis congenita, autosomal dominant 6 HP:0000252 OMIM:616553 TAS P HPO:skoehler[2015-10-05] +OMIM:271109 Spinal muscular atrophy with mental retardation HP:0000252 OMIM:271109 IEA P HPO:iea[2009-02-17] +OMIM:610377 Mevalonic aciduria HP:0000252 PMID:8352861 PCS 2/3 P HPO:iea[2009-02-17];HPO:probinson[2020-11-01] +OMIM:607326 Smith-Mccort dysplasia 1 HP:0000252 OMIM:607326 IEA P HPO:iea[2009-02-17] +OMIM:609060 Combined oxidative phosphorylation deficiency 1 HP:0000252 PMID:15537906 PCS 1/2 HP:0012825 P HPO:probinson[2012-04-17];HPO:probinson[2021-07-12] +OMIM:611603 Lissencephaly 3 HP:0000252 OMIM:611603 IEA P HPO:iea[2009-02-17] +OMIM:268850 Richieri-Costa/guion-Almeida syndrome HP:0000252 OMIM:268850 TAS P HPO:probinson[2012-05-01] +OMIM:620040 Dyskeratosis congenita, digenic HP:0000252 PMID:35931051 PCS 1/10 P HPO:probinson[2022-10-02] +OMIM:301030 Van Esch-O'Driscoll syndrome HP:0000252 PMID:31006512 PCS 9/9 P HPO:skoehler[2019-09-07];HPO:probinson[2022-08-28] +OMIM:610965 XFE progeroid syndrome HP:0000252 PMID:29105242;PMID:17183314 PCS 2/2 P HPO:probinson[2013-01-09];HPO:probinson[2022-03-15];HPO:probinson[2022-03-15] +OMIM:261630 Hyperphenylalaninemia, bh4-deficient, C HP:0000252 OMIM:261630 IEA P HPO:skoehler[2010-06-18] +OMIM:618792 Epileptic encephalopathy, early infantile, 84 HP:0000252 PMID:32001716 PCS 3/30 P HPO:probinson[2020-05-08] +OMIM:611719 Combined oxidative phosphorylation deficiency 5 HP:0000252 OMIM:611719 TAS P HPO:skoehler[2012-10-17] +OMIM:615190 Dyskeratosis congenita, autosomal recessive 5 HP:0000252 OMIM:615190 TAS P HPO:skoehler[2013-06-05] +OMIM:103050 Adenylosuccinase deficiency HP:0000252 OMIM:103050 PCS HP:0040283 P HPO:probinson[2012-03-12] +OMIM:617303 Mucopolysaccharidosis-Plus syndrome HP:0000252 PMID:27547915 PCS 1/2 P HPO:probinson[2021-02-19] +OMIM:616080 Microcephaly 12, primary, autosomal recessive HP:0000252 OMIM:616080 TAS P HPO:skoehler[2014-11-26] +OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications HP:0000252 OMIM:251280 IEA P HPO:iea[2009-02-17] +OMIM:311200 Orofaciodigital syndrome I HP:0000252 OMIM:311200 TAS P HPO:skoehler[2012-10-17] +OMIM:606170 Genitopatellar syndrome HP:0000252 OMIM:606170 IEA P HPO:iea[2009-02-17] +OMIM:613477 Epileptic encephalopathy, early infantile, 5 HP:0000252 PMID:20493457 PCS 3/3 P HPO:skoehler[2013-01-21];HPO:probinson[2022-10-24] +OMIM:614205 3-M syndrome 3 HP:0000252 PMID:21737058 PCS 1/3 P HPO:probinson[2021-07-07] +OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures HP:0000252 PMID:28180184 PCS 1/1 P HPO:probinson[2021-11-10] +OMIM:619272 Mitochondrial complex I deficiency, nuclear type 37 HP:0000252 PMID:32385911 PCS 1/1 P HPO:probinson[2021-06-02] +OMIM:618768 Spastic paraplegia 81, autosomal recessive HP:0000252 PMID:28052917 PCS 2/4 P HPO:probinson[2020-05-07] +OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome HP:0000252 PMID:30824121 PCS 2/4 P HPO:probinson[2020-08-12] +OMIM:612951 Leukoencephalopathy, cystic, without megalencephaly HP:0000252 PMID:19525954 PCS 2/7 P HPO:probinson[2012-04-11];HPO:probinson[2022-11-06] +OMIM:613457 Chromosome 14q11-q22 deletion syndrome HP:0000252 OMIM:613457 TAS P HPO:skoehler[2012-10-17] +OMIM:620023 Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures HP:0000252 PMID:35202461 PCS 6/6 P HPO:probinson[2022-10-07] +OMIM:300998 Mental retardation, X-linked, syndromic, 35 HP:0000252 PMID:25316788;PMID:25846674 PCS 5/7 P HPO:probinson[2021-10-02];HPO:probinson[2021-10-02];HPO:probinson[2021-10-02] +OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy HP:0000252 PMID:30420557 PCS 8/13 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-25] +OMIM:619556 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies HP:0000252 PMID:34314705 PCS 5/15 P HPO:probinson[2022-01-23] +OMIM:302000 Bullous dystrophy, hereditary Macular type HP:0000252 OMIM:302000 IEA P HPO:iea[2009-02-17] +OMIM:619420 Martsolf syndrome 2 HP:0000252 PMID:30730599;PMID:23420520 PCS 3/3 P HPO:probinson[2021-08-22] +OMIM:608233 Hermansky-Pudlak syndrome 2 HP:0000252 PMID:8042664 PCS P HPO:iea[2009-02-17];HPO:probinson[2020-11-02] +OMIM:614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant HP:0000252 PMID:25864721 PCS 2/4 P HPO:skoehler[2019-04-18];HPO:probinson[2023-01-17] +OMIM:616570 Cerebrooculofacioskeletal syndrome 3 HP:0000252 PMID:24700531 PCS 5/5 P HPO:skoehler[2015-10-16];HPO:probinson[2022-11-27] +OMIM:615249 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 HP:0000252 OMIM:615249 TAS P HPO:skoehler[2014-07-11] +OMIM:618950 Suleiman-El-Hattab syndrome HP:0000252 PMID:31209944 PCS 4/4 P HPO:probinson[2020-08-26] +OMIM:251260 Nijmegen breakage syndrome HP:0000252 PMID:22373003 PCS HP:0003577 P HPO:iea[2009-02-17];HPO:probinson[2022-10-12] +OMIM:614066 Spastic paraplegia 47, autosomal recessive HP:0000252 OMIM:614066 TAS P HPO:skoehler[2012-10-17] +OMIM:618402 Intellectual developmental disorder, autosomal recessive 70 HP:0000252 PMID:29522154 PCS 1/5 P HPO:probinson[2022-04-10] +OMIM:619877 Dentici-Novelli neurodevelopmental syndrome HP:0000252 PMID:33397746 PCS 5/5 P HPO:probinson[2022-08-13] +OMIM:615948 Orofaciodigital syndrome XIV HP:0000252 OMIM:615948 TAS P HPO:skoehler[2014-10-06] +OMIM:618397 Combined oxidative phosphorylation deficiency 39 HP:0000252 OMIM:618397 IEA HP:0040284 P HPO:skoehler[2019-09-07] +OMIM:618295 Intellectual developmental disorder, autosomal recessive 67 HP:0000252 PMID:33736665 PCS 6/19 P HPO:probinson[2022-08-12] +OMIM:223540 Dwarfism, mental retardation, and eye abnormality HP:0000252 OMIM:223540 TAS P HPO:skoehler[2015-07-26] +OMIM:259775 Raine syndrome HP:0000252 OMIM:259775 TAS P HPO:probinson[2009-02-17] +OMIM:300896 Congenital disorder of glycosylation, type IIm HP:0000252 PMID:23561849 PCS 2/3 P HPO:skoehler[2013-06-04];HPO:probinson[2021-06-15] +OMIM:170390 Andersen cardiodysrhythmic periodic paralysis HP:0000252 OMIM:170390 IEA P HPO:iea[2009-02-17] +OMIM:615583 Verheij syndrome HP:0000252 OMIM:615583 TAS P HPO:skoehler[2014-02-06] +OMIM:278760 Xeroderma pigmentosum, complementation group F HP:0000252 OMIM:278760 TAS HP:0040283 P HPO:skoehler[2013-07-17] +OMIM:612438 Leukodystrophy, hypomyelinating, 6 HP:0000252 OMIM:612438 IEA P HPO:skoehler[2010-06-19] +OMIM:618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities HP:0000252 PMID:32286009 PCS 8/8 P HPO:probinson[2020-08-31] +OMIM:612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency HP:0000252 OMIM:612716 IEA P HPO:skoehler[2010-06-19] +OMIM:615182 Combined d-2- and l-2-hydroxyglutaric aciduria HP:0000252 OMIM:615182 TAS HP:0040283 P HPO:skoehler[2013-05-03] +OMIM:619609 Galloway-Mowat syndrome 10 HP:0000252 PMID:31481669 PCS 3/3 P HPO:probinson[2022-02-01] +OMIM:619179 Microcephaly 26, primary, autosomal dominant HP:0000252 PMID:33033404;PMID:32910914 PCS 13/13 P HPO:probinson[2021-03-14] +OMIM:609625 Chromosome 10Q26 deletion syndrome HP:0000252 OMIM:609625 IEA P HPO:iea[2009-02-17] +OMIM:181180 Say syndrome HP:0000252 OMIM:181180 IEA P HPO:iea[2009-02-17] +OMIM:609180 Congenital disorder of glycosylation, type IF HP:0000252 OMIM:609180 TAS P HPO:skoehler[2015-08-16] +OMIM:616949 Spinocerebellar ataxia, autosomal recessive 23 HP:0000252 OMIM:616949 IEA P HPO:skoehler[2019-04-18] +OMIM:239800 Hypertelorism, microtia, facial clefting syndrome HP:0000252 OMIM:239800 IEA P HPO:iea[2009-02-17] +OMIM:614437 Cutis laxa, autosomal recessive, type IB HP:0000252 OMIM:614437 TAS HP:0040283 P HPO:skoehler[2013-08-18] +OMIM:617432 Intellectual developmental disorder, autosomal recessive 60 HP:0000252 PMID:28257693 PCS 4/4 P HPO:skoehler[2017-07-13];HPO:probinson[2022-08-13] +OMIM:301072 Neurodevelopmental disorder with epilepsy and hemochromatosis HP:0000252 PMID:24259288 PCS 2/3 P HPO:probinson[2022-08-13] +OMIM:614673 Microcephaly 8, primary, autosomal recessive HP:0000252 OMIM:614673 TAS HP:0012828 P HPO:skoehler[2013-06-12] +OMIM:251270 Microcephaly and chorioretinopathy, autosomal recessive, 1 HP:0000252 OMIM:251270 IEA P HPO:iea[2009-02-17] +OMIM:271900 Canavan disease HP:0000252 PMID:34446995 PCS 2/12 P HPO:probinson[2022-04-30] +OMIM:249310 Megalocornea-Mental retardation syndrome HP:0000252 OMIM:249310 TAS P HPO:skoehler[2012-10-17] +OMIM:615596 Congenital disorder of glycosylation, type Iw HP:0000252 PMID:23842455 PCS 2/2 P HPO:skoehler[2014-02-06];HPO:probinson[2022-03-27] +OMIM:309585 Wilson-Turner syndrome HP:0000252 PMID:1746601 PCS 2/14 P HPO:skoehler[2012-12-03];HPO:probinson[2021-09-28] +OMIM:617664 Combined oxidative phosphorylation deficiency 32 HP:0000252 PMID:28777931 PCS 3/6 P HPO:skoehler[2019-04-18];HPO:probinson[2022-10-31] +OMIM:231070 Geroderma osteodysplasticum HP:0000252 PMID:18348262 PCS 3/8 P HPO:skoehler[2015-02-22];HPO:probinson[2022-08-04] +OMIM:618910 Epileptic encephalopathy, early infantile, 86 HP:0000252 PMID:32427860 PCS 1/2 P HPO:probinson[2020-08-13] +OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities HP:0000252 PMID:34186028 PCS 2/9 P HPO:probinson[2021-10-31] +DECIPHER:66 15q24 recurrent microdeletion syndrome HP:0000252 DECIPHER:66 IEA P HPO:skoehler[2013-05-29] +OMIM:615803 Pontocerebellar hypoplasia, type 10 HP:0000252 OMIM:615803 TAS P HPO:skoehler[2014-06-24] +OMIM:617397 Pseudo-Torch syndrome 2 HP:0000252 PMID:27325888 PCS 1/5 P HPO:skoehler[2017-07-13];HPO:probinson[2022-03-23] +OMIM:263210 Gillessen-Kaesbach-Nishimura syndrome HP:0000252 PMID:25966638 PCS 9/11 P HPO:probinson[2012-05-01];HP:probinson[2019-02-02] +OMIM:248700 Marden-Walker syndrome HP:0000252 OMIM:248700 IEA P HPO:iea[2009-02-17] +OMIM:211750 C syndrome HP:0000252 OMIM:211750 IEA P HPO:iea[2009-02-17] +OMIM:613951 Fanconi anemia, complementation group P HP:0000252 OMIM:613951 TAS HP:0040283 P HPO:skoehler[2012-11-18] +OMIM:216340 Yunis-Varon syndrome HP:0000252 PMID:8411078;PMID:23623387 PCS 13/25 P HPO:probinson[2022-01-22];HPO:iea[2009-02-17];HPO:probinson[2022-01-22] +OMIM:617668 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities HP:0000252 PMID:28757203 PCS 1/3 P HPO:skoehler[2019-04-18];HPO:probinson[2022-10-07] +OMIM:213300 Joubert syndrome 1 HP:0000252 PMID:19668216 PCS 1/7 P HPO:probinson[2021-01-30] +OMIM:619278 Microcephaly, epilepsy, and diabetes syndrome 2 HP:0000252 PMID:33164986 PCS 6/6 HP:0012828 P HPO:probinson[2021-05-31] +OMIM:220500 Doors syndrome HP:0000252 PMID:17994565 PCS 7/26 P HPO:skoehler[2012-10-17];HPO:probinson[2020-09-19] +OMIM:617914 Microcephaly 20, primary, autosomal recessive HP:0000252 PMID:29343805 PCS 7/9 P HPO:skoehler[2019-04-18];HPO:probinson[2023-01-26] +OMIM:615286 Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies HP:0000252 PMID:23620220 PCS 11/24 P HPO:skoehler[2013-09-10];HPO:probinson[2022-11-26] +OMIM:614498 Rigidity and multifocal seizure syndrome, lethal neonatal HP:0000252 OMIM:614498 TAS P HPO:skoehler[2015-02-22] +OMIM:243310 Baraitser-Winter syndrome 1 HP:0000252 OMIM:243310 IEA P HPO:iea[2009-02-17] +OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome HP:0000252 PMID:27346735 PCS 1/1 P HPO:probinson[2021-10-21] +OMIM:300055 Mental retardation, X-linked, syndromic 13 HP:0000252 PMID:11007980 PCS 2/2 FEMALE P HPO:probinson[2021-09-28] +OMIM:300055 Mental retardation, X-linked, syndromic 13 HP:0000252 PMID:11007980 PCS 0/4 MALE P HPO:probinson[2021-09-28] +OMIM:300055 Mental retardation, X-linked, syndromic 13 HP:0000252 PMID:12615169 PCS 1/1 P HPO:iea[2009-02-17] +OMIM:612313 Glass syndrome HP:0000252 OMIM:612313 TAS P HPO:skoehler[2012-10-17] +OMIM:608013 Gaucher disease, perinatal lethal HP:0000252 OMIM:608013 IEA P HPO:iea[2009-02-17] +OMIM:617798 Intellectual developmental disorder, autosomal dominant 53 HP:0000252 PMID:29100089 PCS 1/14 P HPO:probinson[2022-06-16] +OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal HP:0000252 OMIM:608836 IEA P HPO:iea[2009-02-17] +OMIM:611134 Meckel syndrome, type 4 HP:0000252 OMIM:611134 TAS HP:0040283 P HPO:skoehler[2015-04-26] +OMIM:618186 Neuropathy, congenital hypomyelinating, 3 HP:0000252 OMIM:618186 IEA P HPO:skoehler[2019-02-15] +OMIM:615834 Intellectual developmental disorder, autosomal dominant 26 HP:0000252 PMID:23332918;PMID:25205402 PCS 16/22 P HPO:probinson[2022-04-11];HPO:skoehler[2015-09-14];HPO:probinson[2022-04-11] +OMIM:615438 Infantile liver failure syndrome 1 HP:0000252 OMIM:615438 TAS P HPO:skoehler[2015-08-02] +OMIM:617243 Fanconi anemia, complementation group V HP:0000252 PMID:27500492 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2022-09-27] +OMIM:270400 Smith-Lemli-Opitz syndrome HP:0000252 PMID:10807690;PMID:30674241 PCS 11/11 P HPO:probinson[2012-04-24];HPO:probinson[2022-08-23] +OMIM:616211 Epileptic encephalopathy, early infantile, 28 HP:0000252 OMIM:616211 TAS HP:0040283 P HPO:skoehler[2015-02-22] +OMIM:147920 Kabuki syndrome 1 HP:0000252 OMIM:147920 IEA P HPO:iea[2009-02-17] +OMIM:615817 Intellectual developmental disorder, autosomal recessive 43 HP:0000252 PMID:34599609 PCS 1/2 P HPO:probinson[2022-03-11] +OMIM:617412 Brachycephaly, trichomegaly, and developmental delay HP:0000252 PMID:28257692 PCS 2/2 P HPO:skoehler[2017-07-13];HPO:probinson[2021-04-25] +OMIM:219200 Cutis laxa, autosomal recessive, type IIA HP:0000252 OMIM:219200 IEA P HPO:skoehler[2010-06-18] +OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2 HP:0000252 PMID:23603762 PCS HP:0003577 1/1 P HPO:skoehler[2013-09-30];HPO:probinson[2021-05-04] +OMIM:618008 Developmental and epileptic encephalopathy 65 HP:0000252 PMID:29534297 PCS 3/4 P HPO:probinson[2021-02-18] +OMIM:617360 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder HP:0000252 PMID:27479907 PCS 3/7 P HPO:skoehler[2017-07-13];HPO:probinson[2022-09-25] +OMIM:608776 Congenital disorder of glycosylation, type Il HP:0000252 OMIM:608776 IEA P HPO:skoehler[2018-10-08] +OMIM:107500 Aortic arch anomaly with peculiar facies and mental retardation HP:0000252 OMIM:107500 IEA P HPO:iea[2009-02-17] +OMIM:618731 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies HP:0000252 PMID:31256877 PCS 1/5 P HPO:probinson[2020-05-11] +OMIM:609425 Chromosome 3q29 deletion syndrome HP:0000252 PMID:15918153 PCS P HPO:iea[2010-09-13] +OMIM:306990 Holoprosencephaly with fetal akinesia/hypokinesia sequence HP:0000252 OMIM:306990 IEA P HPO:iea[2009-02-17] +OMIM:618744 Epileptic encephalopathy, early infantile, 83 HP:0000252 PMID:31820119 PCS 12/18 P HPO:probinson[2020-04-13] +OMIM:300558 Mental retardation, X-linked 30 HP:0000252 PMID:17853471;PMID:18523455 PCS 4/7 P HPO:iea[2009-02-17];HPO:probinson[2021-09-25];HPO:probinson[2021-09-25] +OMIM:122470 Cornelia de Lange syndrome 1 HP:0000252 OMIM:122470 TAS P HPO:probinson[2009-02-17] +OMIM:617729 Galloway-Mowat syndrome 3 HP:0000252 OMIM:617729 IEA P HPO:skoehler[2019-04-18] +OMIM:309548 Mental retardation, X-linked, associated with fragile site fraxe HP:0000252 PMID:8651274 PCS 1/4 P HPO:probinson[2021-10-02] +OMIM:602249 Progeroid facial appearance with hand anomalies HP:0000252 OMIM:602249 IEA P HPO:iea[2009-02-17] +OMIM:619059 Mitochondrial complex IV deficiency, nuclear type 15 HP:0000252 PMID:26685157 PCS HP:0003593 1/1 P HPO:probinson[2020-12-06] +OMIM:614608 Coffin-Siris syndrome 3 HP:0000252 PMID:22426308 PCS 2/3 P HPO:probinson[2013-08-10];HPO:probinson[2022-12-11] +OMIM:617062 Okur-Chung neurodevelopmental syndrome HP:0000252 OMIM:617062 TAS P HPO:skoehler[2017-07-13] +OMIM:617182 Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia HP:0000252 PMID:27677260 PCS 0/3 P HPO:probinson[2022-10-11] +OMIM:619304 Pontocerebellar hypoplasia, type 1F HP:0000252 PMID:33463720 PCS 1/1 P HPO:probinson[2021-07-06] +OMIM:600325 Aminopterin syndrome sine aminopterin HP:0000252 OMIM:600325 TAS P HPO:skoehler[2012-10-17] +OMIM:615807 Seckel syndrome 8 HP:0000252 OMIM:615807 TAS P HPO:skoehler[2014-06-24] +OMIM:614322 Spinocerebellar ataxia, autosomal recessive 12 HP:0000252 OMIM:614322 TAS P HPO:skoehler[2014-03-24] +OMIM:234050 Trichothiodystrophy 4, nonphotosensitive HP:0000252 OMIM:234050 TAS P HPO:skoehler[2014-10-06] +OMIM:610651 Xeroderma pigmentosum, complementation group B HP:0000252 OMIM:610651 IEA P HPO:iea[2009-02-17] +OMIM:616683 Leukodystrophy, hypomyelinating, 12 HP:0000252 PMID:27120463 PCS P HPO:probinson[2017-06-17] +OMIM:614082 Fanconi anemia, complementation group G HP:0000252 PMID:11093276 PCS 14/22 P HPO:probinson[2013-08-10] +OMIM:611936 Chromosome 3q29 duplication syndrome HP:0000252 PMID:18241066 PCS 4/5 P HPO:iea[2010-09-14] +OMIM:193700 Arthrogryposis, distal, type 2A HP:0000252 OMIM:193700 IEA P HPO:iea[2009-02-17] +OMIM:214800 Charge syndrome HP:0000252 OMIM:214800 IEA P HPO:iea[2009-02-17] +OMIM:123450 Cri-Du-Chat syndrome HP:0000252 ISBN-13:978-0721606156 PCS P HPO:iea[2012-04-24] +OMIM:248910 Cutaneous mastocytosis, conductive hearing loss, and microtia HP:0000252 PMID:19764024 PCS 3/3 P HPO:iea[2009-02-17];HPO:probinson[2020-10-20] +OMIM:218900 Crome syndrome HP:0000252 PMID:14065995 PCS 2/2 P HPO:probinson[2020-02-23] +OMIM:616577 Epilepsy, hearing loss, and mental retardation syndrome HP:0000252 PMID:26299366 PCS 12/13 P HPO:skoehler[2015-11-15];HPO:probinson[2022-03-15] +OMIM:612530 Chromosome 1q41-q42 deletion syndrome HP:0000252 PMID:17873649 PCS 3/7 P HPO:skoehler[2012-10-17];HPO:probinson[2022-05-30] +OMIM:619881 Developmental and epileptic encephalopathy 102 HP:0000252 PMID:34605855 PCS 8/10 P HPO:probinson[2022-08-13];HPO:probinson[2022-08-13] +OMIM:615553 Arthrogryposis, mental retardation, and seizures HP:0000252 PMID:24031089 PCS P HPO:skoehler[2014-01-28];HPO:probinson[2022-03-26] +OMIM:601358 Nicolaides-Baraitser syndrome HP:0000252 PMID:22366787;PMID:22822383 PCS 20/38 P HPO:skoehler[2012-11-18];HPO:probinson[2022-09-28];HPO:probinson[2022-09-28] +OMIM:616739 Mental retardation, autosomal recessive 51 HP:0000252 OMIM:616739 TAS P HPO:skoehler[2017-07-13] +OMIM:605724 Fanconi anemia, complementation group D1 HP:0000252 PMID:15070707 PCS 3/7 P HPO:probinson[2013-03-24] +OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1 HP:0000252 OMIM:618005 IEA P HPO:skoehler[2019-04-18] +OMIM:617669 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity HP:0000252 OMIM:617669 IEA P HPO:skoehler[2019-04-18] +OMIM:613151 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 HP:0000252 OMIM:613151 TAS P HPO:skoehler[2012-10-17] +OMIM:619268 Alzahrani-Kuwahara syndrome HP:0000252 PMID:33242396 PCS 7/9 P HPO:probinson[2021-05-31] +OMIM:614947 Combined oxidative phosphorylation deficiency 15 HP:0000252 OMIM:614947 TAS HP:0040283 P HPO:skoehler[2014-07-11] +OMIM:610127 Ceroid lipofuscinosis, neuronal, 10 HP:0000252 PMID:16670177 PCS 3/4 P HPO:iea[2009-02-17];HPO:probinson[2021-10-23] +OMIM:613800 Meier-Gorlin syndrome 2 HP:0000252 PMID:21358632 PCS 2/3 P HPO:skoehler[2012-10-17];HPO:probinson[2022-03-26] +OMIM:619229 Kohlschutter-Tonz syndrome-like HP:0000252 PMID:33513338 PCS 4/25 P HPO:probinson[2021-06-20];HPO:probinson[2021-06-20] +OMIM:200130 Absent eyebrows and eyelashes with mental retardation HP:0000252 OMIM:200130 PCS 2/2 P HPO:probinson[2009-02-17] +OMIM:211369 Brachydactyly, type A2, with microcephaly HP:0000252 OMIM:211369 IEA P HPO:iea[2009-02-17] +OMIM:259770 Osteoporosis-pseudoglioma syndrome HP:0000252 OMIM:259770 IEA P HPO:iea[2009-02-17] +OMIM:614226 Holoprosencephaly 11 HP:0000252 PMID:21802063 PCS P HPO:probinson[2013-03-12] +OMIM:300953 Trichothiodystrophy 5, nonphotosensitive HP:0000252 OMIM:300953 TAS P HPO:skoehler[2015-06-22];HPO:probinson[2023-01-20] +OMIM:619720 Bryant-Li-Bhoj neurodevelopmental syndrome 1 HP:0000252 PMID:33268356 PCS 8/33 P HPO:probinson[2022-05-09] +OMIM:613150 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 HP:0000252 OMIM:613150 TAS P HPO:skoehler[2012-10-17] +OMIM:619876 Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures HP:0000252 PMID:35121750 PCS 7/8 P HPO:probinson[2022-07-20] +OMIM:259720 Osteopetrosis, autosomal recessive 5 HP:0000252 PMID:16813530;PMID:23772242 PCS 2/4 P HPO:probinson[2022-07-01];HPO:skoehler[2019-02-22];HPO:probinson[2022-02-19] +OMIM:603736 Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant HP:0000252 OMIM:603736 IEA P HPO:skoehler[2018-10-08] +OMIM:250800 Methemoglobinemia due to deficiency of methemoglobin reductase HP:0000252 OMIM:250800 IEA P HPO:iea[2009-02-17] +OMIM:615789 Short stature with microcephaly and distinctive facies HP:0000252 PMID:24389050 TAS 2/2 P HPO:probinson[2015-05-08] +OMIM:616139 Developmental and epileptic encephalopathy 27 HP:0000252 OMIM:616139 IEA HP:0040284 P HPO:skoehler[2019-04-18] +OMIM:616606 Ring chromosome 14 syndrome HP:0000252 OMIM:616606 TAS P HPO:skoehler[2015-11-15] +OMIM:618985 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant HP:0000252 PMID:29844444 PCS 3/9 P HPO:probinson[2020-09-10] +OMIM:617193 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum HP:0000252 PMID:27666370 PCS 4/7 P HPO:probinson[2021-05-04] +OMIM:616801 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 HP:0000252 PMID:26708753 PCS 3/6 P HPO:probinson[2017-06-18] +OMIM:270450 Insulin-Like growth factor I, resistance to HP:0000252 OMIM:270450 IEA P HPO:iea[2009-02-17] +OMIM:610474 Camptodactyly, tall stature, and hearing loss syndrome HP:0000252 PMID:17033969 PCS P HPO:iea[2009-02-17];HPO:probinson[2023-01-17] +OMIM:614231 Microcephaly, epilepsy, and diabetes syndrome HP:0000252 OMIM:614231 TAS P HPO:skoehler[2013-01-22] +OMIM:226960 Lowry-Wood syndrome HP:0000252 PMID:29265708;PMID:30368667 PCS 5/5 P HPO:probinson[2009-02-17];HPO:probinson[2020-09-15];HPO:probinson[2020-09-15] +OMIM:619742 Charcot-Marie-Tooth disease, demyelinating, type 1I HP:0000252 PMID:33417887 PCS 1/6 P HPO:probinson[2022-04-19] +OMIM:616353 Dyskeratosis congenita, autosomal recessive 6 HP:0000252 PMID:25893599 PCS 4/4 P HPO:skoehler[2015-05-31];HPO:probinson[2022-09-26] +OMIM:614833 Microcephaly, short stature, and polymicrogyria with or without seizures HP:0000252 PMID:26608784 PCS 6/6 P HPO:skoehler[2012-11-21];HP:probinson[2019-03-02] +OMIM:212065 Congenital disorder of glycosylation, type Ia HP:0000252 OMIM:212065 IEA P HPO:skoehler[2009-02-17] +OMIM:618006 Leukodystrophy, hypomyelinating, 17 HP:0000252 PMID:29215095 PCS 4/4 P HPO:skoehler[2019-04-18];HPO:probinson[2022-10-01] +OMIM:618346 Microcephaly, growth deficiency, seizures, and brain malformations HP:0000252 PMID:26416026 PCS 2/2 P HPO:skoehler[2019-04-18];HPO:probinson[2022-04-08] +OMIM:245450 LACTIC ACIDURIA DUE TO D-LACTIC ACID HP:0000252 OMIM:245450 IEA P HPO:iea[2009-02-17] +OMIM:122900 Craniofacial dysostosis with diaphyseal hyperplasia HP:0000252 OMIM:122900 TAS P HPO:skoehler[2015-07-26] +OMIM:239710 Acrofrontofacionasal dysostosis 2 HP:0000252 OMIM:239710 TAS P HPO:probinson[2012-05-01] +DECIPHER:54 Angelman syndrome (Type 2) HP:0000252 DECIPHER:54 IEA P HPO:skoehler[2013-05-29] +OMIM:302950 Chondrodysplasia punctata 1, X-linked recessive HP:0000252 OMIM:302950 IEA P HPO:iea[2009-02-17] +OMIM:617575 Nephrotic syndrome, type 14 HP:0000252 OMIM:617575 IEA P HPO:skoehler[2019-04-18] +OMIM:301041 Wieacker-Wolff syndrome, female-restricted HP:0000252 PMID:31206972 PCS P HPO:probinson[2020-07-25] +OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities HP:0000252 OMIM:618354 IEA HP:0040284 P HPO:skoehler[2019-04-18] +OMIM:616954 You-Hoover-Fong syndrome HP:0000252 OMIM:616954 TAS P HPO:skoehler[2017-07-13] +OMIM:613990 Dyskeratosis congenita, autosomal dominant 3 HP:0000252 OMIM:613990 TAS P HPO:skoehler[2012-10-17] +OMIM:606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 HP:0000252 OMIM:606612 IEA P HPO:iea[2009-02-17] +OMIM:619273 Cimdag syndrome HP:0000252 PMID:33186545 PCS 6/6 P HPO:probinson[2021-06-19] +OMIM:616339 Epileptic encephalopathy, early infantile, 29 HP:0000252 PMID:25817015 PCS 3/3 P HPO:skoehler[2015-06-22];HPO:probinson[2022-03-24] +OMIM:619157 Neurodevelopmental disorder with or without early-onset generalized epilepsy HP:0000252 PMID:30269351 PCS 3/24 P HPO:probinson[2021-03-06] +OMIM:618056 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures HP:0000252 OMIM:618056 IEA P HPO:skoehler[2018-10-08] +OMIM:614462 Hyperglycinemia, lactic acidosis, and seizures HP:0000252 OMIM:614462 TAS P HPO:skoehler[2012-10-17] +OMIM:278700 Xeroderma pigmentosum, complementation group A HP:0000252 OMIM:278700 IEA P HPO:iea[2009-02-17] +OMIM:619950 Tessadori-van Haaften neurodevelopmental syndrome 3 HP:0000252 PMID:35202563 PCS 1/17 P HPO:probinson[2022-08-21] +OMIM:309541 Methylmalonic acidemia and homocysteinemia, Cblx type HP:0000252 OMIM:309541 TAS P HPO:skoehler[2013-11-18] +OMIM:616716 Rhizomelic chondrodysplasia punctata, type 5 HP:0000252 PMID:26220973 PCS 4/4 P HPO:skoehler[2015-12-30];HPO:probinson[2021-07-05] +DECIPHER:21 Miller-Dieker syndrome (MDS) HP:0000252 DECIPHER:21 IEA P HPO:skoehler[2013-05-29] +OMIM:618143 Glycosylphosphatidylinositol biosynthesis defect 18 HP:0000252 PMID:33410539;PMID:30269814 PCS 8/10 P HPO:lccarmody[2018-12-18];HPO:lccarmody[2018-12-18];HPO:probinson[2021-06-27] +OMIM:154400 Acrofacial dysostosis 1, Nager type HP:0000252 OMIM:154400 IEA P HPO:iea[2009-02-17] +OMIM:620001 Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities HP:0000252 PMID:34385670 PCS 5/6 P HPO:probinson[2022-08-28] +OMIM:614609 Coffin-Siris syndrome 4 HP:0000252 OMIM:614609 TAS 4/5 P HPO:probinson[2013-08-10] +OMIM:619012 Combined oxidative phosphorylation deficiency 48 HP:0000252 PMID:27356879 PCS 1/1 P HPO:probinson[2022-03-04] +OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome HP:0000252 OMIM:613355 IEA P HPO:skoehler[2010-06-19] +OMIM:619880 Neurodevelopmental disorder with poor growth and skeletal anomalies HP:0000252 PMID:34244665 PCS 12/19 P HPO:probinson[2022-08-14] +OMIM:617784 Fanconi anemia, complementation group W HP:0000252 PMID:28691929 PCS 1/1 P HPO:probinson[2018-04-13] +OMIM:613161 Beta-ureidopropionase deficiency HP:0000252 OMIM:613161 TAS P HPO:skoehler[2010-06-20];HPO:probinson[2022-11-28] +OMIM:619243 Global developmental delay with speech and behavioral abnormalities HP:0000252 PMID:32152250 PCS 3/17 P HPO:probinson[2021-05-11] +OMIM:615683 Spastic paraplegia 64, autosomal recessive HP:0000252 PMID:24482476 PCS 2/4 P HPO:probinson[2015-05-10] +OMIM:615777 Desbuquois dysplasia 2 HP:0000252 OMIM:615777 IEA P HPO:skoehler[2019-04-18] +OMIM:618798 Beck-Fahrner syndrome HP:0000252 PMID:31928709 PCS 1/11 P HPO:probinson[2020-05-18] +DECIPHER:52 9q subtelomeric deletion syndrome HP:0000252 DECIPHER:52 IEA P HPO:skoehler[2013-05-29] +OMIM:601808 Chromosome 18Q deletion syndrome HP:0000252 OMIM:601808 IEA P HPO:iea[2009-02-17] +OMIM:300855 Ogden syndrome HP:0000252 OMIM:300855 TAS P HPO:skoehler[2015-12-30] +OMIM:601675 Trichothiodystrophy 1, photosensitive HP:0000252 PMID:9758621 PCS P HPO:iea[2009-02-17];HPO:probinson[2022-03-26] +OMIM:616657 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly HP:0000252 PMID:25930971 PCS 1/2 P HPO:skoehler[2015-12-30];HPO:probinson[2022-09-25] +OMIM:616977 Intellectual developmental disorder, autosomal dominant 43 HP:0000252 PMID:26153216 PCS 1/3 P HPO:skoehler[2017-07-13];HPO:probinson[2022-06-09] +OMIM:278780 Xeroderma pigmentosum, complementation group G HP:0000252 PMID:23255472;PMID:11228268 PCS 1/3 P HPO:skoehler[2015-11-15];HPO:probinson[2022-03-15];HPO:probinson[2022-03-15] +OMIM:615485 Bainbridge-Ropers syndrome HP:0000252 PMID:26647312;PMID:24044690;PMID:23383720 PCS 3/8 P HPO:skoehler[2018-10-08];HPO:probinson[2021-10-03];HPO:probinson[2021-10-03] +OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects HP:0000252 PMID:26358754;PMID:23863341 PCS 2/2 P HPO:probinson[2021-01-24] +OMIM:227645 Fanconi anemia, complementation group C HP:0000252 OMIM:227645 IEA P HPO:iea[2009-02-17] +OMIM:178110 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A HP:0000252 OMIM:178110 IEA HP:0040284 P HPO:skoehler[2019-09-07] +OMIM:619641 Hengel-Maroofian-Schols syndrome HP:0000252 PMID:34022130 PCS 11/13 P HPO:probinson[2022-02-12] +OMIM:300114 Raynaud-Claes syndrome HP:0000252 PMID:23647072 PCS 1/1 P HPO:probinson[2022-11-25] +OMIM:618730 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity HP:0000252 PMID:31586943;PMID:31735293 PCS 19/21 P HPO:probinson[2020-04-29] +OMIM:614207 Hyperphosphatasia with mental retardation syndrome 3 HP:0000252 OMIM:614207 TAS HP:0040283 P HPO:skoehler[2013-06-04] +OMIM:613026 Chromosome 19q13.11 deletion syndrome, distal HP:0000252 PMID:19126570 PCS 3/3 P HPO:skoehler[2010-06-19];HPO:probinson[2021-07-06] +OMIM:618500 Holoprosencephaly 12 with or without pancreatic agenesis HP:0000252 OMIM:618500 IEA P HPO:skoehler[2019-09-07] +OMIM:113477 Brachymorphism-Onychodysplasia-Dysphalangism syndrome HP:0000252 OMIM:113477 IEA P HPO:iea[2009-02-17] +OMIM:300590 Cornelia de Lange syndrome 2 HP:0000252 PMID:20358602 PCS P HPO:probinson[2013-02-17] +OMIM:619123 Cardiofacioneurodevelopmental syndrome HP:0000252 PMID:32307552 PCS 2/2 P HPO:probinson[2021-02-14] +OMIM:617164 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay HP:0000252 PMID:27476655 PCS 3/4 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-06] +OMIM:236100 Holoprosencephaly 1 HP:0000252 OMIM:236100 TAS P HPO:skoehler[2017-07-13] +OMIM:615284 Charcot-Marie-Tooth disease, type 4B3 HP:0000252 OMIM:615284 TAS P HPO:skoehler[2015-02-22] +OMIM:617604 Microcephaly, short stature, and limb abnormalities HP:0000252 OMIM:617604 IEA P HPO:skoehler[2019-04-18] +OMIM:619343 Chromosome 1p36 deletion syndrome, proximal HP:0000252 PMID:17850629 PCS 4/5 P HPO:probinson[2022-02-20] +OMIM:618367 Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination HP:0000252 OMIM:618367 IEA P HPO:skoehler[2019-04-18] +OMIM:619895 Holoprosencephaly 14 HP:0000252 PMID:33820834 PCS 1/4 P HPO:probinson[2022-06-26] +OMIM:616342 Lissencephaly 7 with cerebellar hypoplasia HP:0000252 PMID:25560765 PCS P HPO:skoehler[2015-07-26];HPO:probinson[2022-09-23] +OMIM:147791 Jacobsen syndrome HP:0000252 OMIM:147791 IEA P HPO:iea[2009-02-17] +OMIM:243605 Stromme syndrome HP:0000252 OMIM:243605 IEA P HPO:skoehler[2019-04-18] +OMIM:251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) HP:0000252 OMIM:251880 IEA P HPO:iea[2009-02-17] +OMIM:278800 De Sanctis-Cacchione syndrome HP:0000252 PMID:1372469 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2022-04-10] +OMIM:612390 Pontocerebellar hypoplasia, type 2C HP:0000252 PMID:18711368 PCS P HPO:probinson[2013-04-14] +OMIM:255995 Myopathy, congenital, bailey-bloch HP:0000252 OMIM:255995 IEA P HPO:skoehler[2019-02-22] +OMIM:616420 Leukodystrophy, hypomyelinating, 10 HP:0000252 OMIM:616420 TAS P HPO:skoehler[2015-07-05] +OMIM:619234 Short stature, oligodontia, dysmorphic facies, and motor delay HP:0000252 PMID:31089205 PCS 1/3 P HPO:probinson[2021-05-30] +DECIPHER:2 Cri du Chat Syndrome (5p deletion) HP:0000252 DECIPHER:2 IEA P HPO:skoehler[2013-05-29] +OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome HP:0000252 PMID:32031333 PCS 1/12 P HPO:probinson[2022-06-25] +OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type HP:0000252 PMID:26235985 PCS 12/38 FEMALE P HPO:skoehler[2015-10-05];HPO:probinson[2020-09-02] +OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type HP:0000252 PMID:26235985 PCS 2/5 MALE P HPO:probinson[2020-09-02] +OMIM:619814 Developmental and epileptic encephalopathy 101 HP:0000252 PMID:27164704 PCS 1/3 P HPO:probinson[2022-05-14] +OMIM:616602 Craniosynostosis 6 HP:0000252 OMIM:616602 TAS HP:0040283 P HPO:skoehler[2015-11-29] +OMIM:245552 Lambotte syndrome HP:0000252 OMIM:245552 IEA P HPO:iea[2009-02-17] +OMIM:618383 Intellectual developmental disorder, autosomal recessive 69 HP:0000252 PMID:29893856 PCS 5/9 P HPO:skoehler[2019-04-18];HPO:probinson[2022-12-14] +OMIM:615465 Hartsfield syndrome HP:0000252 OMIM:615465 TAS P HPO:skoehler[2013-10-22] +OMIM:618179 Microcephaly 24, primary, autosomal recessive HP:0000252 OMIM:618179 IEA P HPO:skoehler[2019-04-18] +OMIM:615846 Aicardi-Goutieres syndrome 7 HP:0000252 PMID:24686847 PCS 2/5 P HPO:skoehler[2014-06-24];HPO:probinson[2022-05-26] +OMIM:148820 Waardenburg syndrome, type 3 HP:0000252 OMIM:148820 IEA P HPO:iea[2009-02-17] +OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities HP:0000252 PMID:32822602 PCS 2/3 P HPO:probinson[2021-02-14] +OMIM:300997 Mental retardation, X-linked 106 HP:0000252 PMID:28584052;PMID:28302723 PCS 2/5 P HPO:probinson[2021-09-28];HPO:skoehler[2019-04-18];HPO:probinson[2021-09-28] +OMIM:614063 N-ACETYLASPARTATE DEFICIENCY HP:0000252 OMIM:614063 TAS P HPO:probinson[2013-08-10] +OMIM:617941 Shwachman-Diamond syndrome 2 HP:0000252 PMID:28331068 PCS 4/6 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-15] +OMIM:252650 Mucolipidosis IV HP:0000252 OMIM:252650 IEA P HPO:iea[2009-02-17] +OMIM:619255 Baralle-Macken syndrome HP:0000252 PMID:33632302 PCS 5/6 P HPO:probinson[2021-06-20] +OMIM:616586 Spastic paraplegia 9B, autosomal recessive HP:0000252 PMID:26026163 PCS 4/6 P HPO:skoehler[2015-11-15];HPO:probinson[2022-12-13] +OMIM:300004 Corpus callosum, agenesis of, with abnormal genitalia HP:0000252 OMIM:300004 TAS P HPO:skoehler[2010-06-18] +OMIM:609069 Pancreatic and cerebellar agenesis HP:0000252 OMIM:609069 TAS P HPO:skoehler[2014-08-24] +OMIM:271110 Spinal muscular atrophy with microcephaly and mental subnormality HP:0000252 OMIM:271110 IEA P HPO:iea[2009-02-17] +OMIM:607596 Pontocerebellar hypoplasia type 1A HP:0000252 PMID:19646678 PCS 2/2 P HPO:probinson[2022-05-14] +OMIM:218650 Craniosynostosis-Mental retardation-clefting syndrome HP:0000252 OMIM:218650 IEA P HPO:iea[2009-02-17] +OMIM:300434 Stocco dos santos X-linked mental retardation syndrome HP:0000252 OMIM:300434 TAS P HPO:skoehler[2017-07-13] +OMIM:618702 Short stature and microcephaly with genital anomalies HP:0000252 PMID:29228025 IEA 2/2 P HPO:probinson[2020-07-21] +OMIM:615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy HP:0000252 OMIM:615760 TAS P HPO:skoehler[2014-10-06] +OMIM:617255 Lissencephaly 8 HP:0000252 PMID:27773428 PCS 2/7 P HPO:skoehler[2017-07-13];HPO:probinson[2022-10-01] +OMIM:617244 Fanconi anemia, complementation group R HP:0000252 OMIM:617244 TAS P HPO:skoehler[2017-07-13] +OMIM:613680 Beaulieu-Boycott-Innes syndrome HP:0000252 PMID:23621916 PCS 4/4 P HPO:skoehler[2012-10-17];HPO:probinson[2022-09-08] +OMIM:618808 Intellectual developmental disorder with poor growth and with or without seizures or ataxia HP:0000252 PMID:29302074 PCS 1/3 P HPO:probinson[2020-05-12] +OMIM:614023 Phosphoserine phosphatase deficiency HP:0000252 OMIM:614023 TAS HP:0040283 P HPO:skoehler[2015-04-19] +OMIM:300260 Mental retardation, x-linked syndromic, Lubs type HP:0000252 PMID:17172942 PCS 1/7 P HPO:iea[2009-02-17];HPO:probinson[2021-05-10] +OMIM:605376 Heterotaxy, visceral, 2, autosomal HP:0000252 PMID:11062482 PCS 1/3 P HPO:probinson[2022-10-07] +OMIM:215100 Rhizomelic chondrodysplasia punctata, type 1 HP:0000252 OMIM:215100 IEA P HPO:iea[2009-02-17] +OMIM:303350 MASA syndrome HP:0000252 OMIM:303350 IEA P HPO:iea[2009-02-17] +OMIM:112370 Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay HP:0000252 OMIM:112370 IEA P HPO:iea[2009-02-17] +OMIM:619989 Neurodevelopmental disorder with speech delay and variable ocular anomalies HP:0000252 PMID:35196516 PCS 4/10 P HPO:probinson[2022-08-28] +OMIM:600384 Aphalangia, partial, with syndactyly and duplication of metatarsaliv HP:0000252 OMIM:600384 IEA P HPO:iea[2009-02-17] +OMIM:618468 Epileptic encephalopathy, early infantile, 76 HP:0000252 PMID:31031012 PCS 6/11 P HPO:probinson[2020-05-15];HPO:probinson[2020-05-15] +OMIM:618606 Pontocerebellar hypoplasia, type 13 HP:0000252 PMID:30624672;PMID:31207318 PCS 11/11 P HPO:probinson[2020-07-15];HPO:probinson[2020-07-15];HPO:probinson[2020-07-15] +OMIM:618709 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures HP:0000252 PMID:31353024 PCS 2/15 P HPO:probinson[2020-07-07] +OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity HP:0000252 OMIM:236250 IEA P HPO:iea[2009-02-17] +OMIM:609460 Goldberg-Shprintzen syndrome HP:0000252 OMIM:609460 IEA P HPO:iea[2009-02-17] +OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal dominant HP:0000252 PMID:34653363 PCS 1/16 P HPO:probinson[2022-03-18] +OMIM:619188 Intellectual developmental disorder, autosomal dominant 64 HP:0000252 PMID:31723249 PCS 4/28 P HPO:probinson[2021-04-27] +OMIM:254940 Carey-Fineman-Ziter syndrome HP:0000252 OMIM:254940 TAS P HPO:skoehler[2017-07-13] +OMIM:617364 Congenital heart defects and ectodermal dysplasia HP:0000252 PMID:27479907 PCS 2/3 P HPO:skoehler[2017-07-13];HPO:probinson[2022-12-18] +OMIM:618506 Coffin-Siris syndrome 10 HP:0000252 OMIM:618506 IEA P HPO:skoehler[2019-09-07] +OMIM:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1 HP:0000252 PMID:17460227 PCS 1/1 P HPO:skoehler[2012-10-17];HPO:probinson[2022-08-07] +OMIM:601420 Microcephaly, corpus callosum dysgenesis, and cleft lip/palate HP:0000252 OMIM:601420 IEA P HPO:iea[2009-02-17] +OMIM:620012 Developmental delay, hypotonia, and impaired language HP:0000252 PMID:35395208 PCS 2/35 P HPO:probinson[2022-09-04] +OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities HP:0000252 PMID:30612693 PCS 3/13 P HPO:skoehler[2019-09-07];HPO:probinson[2022-09-30] +OMIM:618302 Intellectual developmental disorder, autosomal recessive 68 HP:0000252 PMID:30289604 PCS HP:0003577 3/4 P HPO:skoehler[2019-04-18];HPO:probinson[2022-03-11] +OMIM:614457 Ichthyosis, spastic quadriplegia, and mental retardation HP:0000252 OMIM:614457 TAS HP:0040283 P HPO:skoehler[2012-11-18] +OMIM:619091 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive HP:0000252 PMID:32738225 PCS 24/24 P HPO:probinson[2020-12-22] +OMIM:612337 Intellectual developmental disorder, autosomal dominant 22 HP:0000252 PMID:24193349 PCS 1/1 P HPO:skoehler[2012-10-17];HPO:probinson[2022-06-11] +OMIM:618089 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities HP:0000252 PMID:30057029 PCS 5/20 P HPO:skoehler[2018-10-08];HPO:probinson[2022-11-09] +OMIM:610031 Cortical dysplasia, complex, with other brain malformations 7 HP:0000252 OMIM:610031 IEA P HPO:skoehler[2010-06-18] +OMIM:613155 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 HP:0000252 PMID:16575835 PCS 5/5 P HPO:skoehler[2012-10-17];HPO:probinson[2022-11-04] +OMIM:620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment HP:0000252 PMID:35858628 PCS 5/5 P HPO:probinson[2022-10-02] +OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures HP:0000252 PMID:32196122 PCS 1/2 P HPO:probinson[2021-03-05] +OMIM:617695 Pontocerebellar hypoplasia, type 11 HP:0000252 OMIM:617695 IEA P HPO:skoehler[2019-04-18] +OMIM:617276 Developmental and epileptic encephalopathy 48 HP:0000252 PMID:27889060 PCS 9/12 P HPO:skoehler[2017-07-13];HPO:probinson[2021-02-13] +OMIM:610006 2-Methylbutyryl-Coa dehydrogenase deficiency HP:0000252 OMIM:610006 IEA P HPO:iea[2009-02-17] +OMIM:617827 Immunodeficiency 55 HP:0000252 PMID:28414293 PCS 2/5 P HPO:skoehler[2019-04-18];HPO:probinson[2022-09-25] +OMIM:617013 Hypermanganesemia with dystonia 2 HP:0000252 PMID:27231142 PCS 1/9 P HP:probinson[2022-02-27] +OMIM:610832 Fanconi anemia, complementation group N HP:0000252 OMIM:610832 TAS P HPO:probinson[2013-04-01] +OMIM:251220 MICROCEPHALY-CARDIOMYOPATHY HP:0000252 OMIM:251220 IEA P HPO:iea[2009-02-17] +OMIM:616362 Mental retardation, autosomal dominant 36 HP:0000252 PMID:26168268 PCS 2/5 P HPO:skoehler[2015-11-15];HPO:probinson[2022-04-12] +OMIM:309801 Linear skin defects with multiple congenital anomalies 1 HP:0000252 PMID:16059943 PCS 1/8 P HPO:iea[2009-02-17];HPO:probinson[2022-06-25] +OMIM:619606 Developmental and epileptic encephalopathy 99 HP:0000252 PMID:33880529 PCS 8/16 P HPO:probinson[2022-02-26] +OMIM:614946 Combined oxidative phosphorylation deficiency 14 HP:0000252 PMID:22833457 PCS 2/2 P HPO:skoehler[2012-12-30];HPO:probinson[2022-11-11] +OMIM:601352 Mental retardation, microcephaly, epilepsy, and coarse face HP:0000252 OMIM:601352 IEA P HPO:iea[2009-02-17] +OMIM:619851 Leukodystrophy, hypomyelinating, 24 HP:0000252 PMID:34403372 PCS 1/1 P HPO:probinson[2022-06-12] +OMIM:617247 FANCONI ANEMIA, COMPLEMENTATION GROUP U HP:0000252 PMID:22232082 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2022-03-15] +OMIM:261640 Hyperphenylalaninemia, BH4-deficient, A HP:0000252 OMIM:261640 IEA P HPO:skoehler[2010-06-18] +OMIM:619090 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy HP:0000252 PMID:32693025 PCS 15/20 P HPO:probinson[2021-03-08] +OMIM:611093 Intellectual developmental disorder, autosomal recessive 7 HP:0000252 PMID:18452889 PCS 0/7 P HPO:probinson[2022-06-14] +OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies HP:0000252 PMID:31422817 PCS 2/4 P HPO:probinson[2020-07-17] +OMIM:615031 Spastic paraplegia 49, autosomal recessive HP:0000252 OMIM:615031 TAS P HPO:skoehler[2013-03-08] +OMIM:619076 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy HP:0000252 PMID:32103185 PCS 3/3 P HPO:probinson[2020-12-13] +OMIM:601349 Microphthalmia, syndromic 8 HP:0000252 OMIM:601349 IEA P HPO:skoehler[2010-06-20] +OMIM:300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2 HP:0000252 OMIM:300868 TAS HP:0040283 P HPO:skoehler[2014-06-24] +OMIM:619616 Neurodevelopmental disorder with hearing loss and spasticity HP:0000252 PMID:34626583 PCS 13/25 P HPO:probinson[2022-01-29] +OMIM:216100 Cleft lip/palate with abnormal thumbs and microcephaly HP:0000252 OMIM:216100 IEA P HPO:iea[2009-02-17] +OMIM:612946 Hadziselimovic syndrome HP:0000252 OMIM:612946 IEA P HPO:skoehler[2010-06-19] +OMIM:610954 Pitt-Hopkins syndrome HP:0000252 PMID:17436255 PCS 4/6 P HPO:skoehler[2010-06-19];HPO:probinson[2022-09-11] +OMIM:619980 Braddock-Carey syndrome 1 HP:0000252 PMID:27549381 PCS 2/2 P HPO:probinson[2022-08-17] +OMIM:225790 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome HP:0000252 OMIM:225790 IEA P HPO:skoehler[2019-04-18] +OMIM:615414 Microcephaly 11, primary, autosomal recessive HP:0000252 OMIM:615414 TAS P HPO:skoehler[2013-09-30] +OMIM:613404 Arthrogryposis, renal dysfunction, and cholestasis 2 HP:0000252 OMIM:613404 TAS P HPO:skoehler[2012-10-17] +OMIM:619472 VISS syndrome HP:0000252 PMID:33875846 PCS 1/9 P HPO:probinson[2021-10-10] +OMIM:618918 Periventricular nodular heterotopia 9 HP:0000252 PMID:31317654 PCS 1/1 P HPO:probinson[2020-08-11] +OMIM:140350 Hawkinsinuria HP:0000252 PMID:11073718 PCS 1/3 P HPO:probinson[2022-12-18];HPO:probinson[2022-12-18] +OMIM:219000 Fraser syndrome HP:0000252 OMIM:219000 IEA P HPO:iea[2009-02-17] +OMIM:617253 Seckel syndrome 10 HP:0000252 OMIM:617253 TAS P HPO:skoehler[2017-07-13] +OMIM:613330 Spondylo-megaepiphyseal-metaphyseal dysplasia HP:0000252 PMID:20004766 PCS 1/3 P HPO:probinson[2022-12-14] +OMIM:618454 Developmental delay with or without dysmorphic facies and autism HP:0000252 PMID:30827496 PCS 7/24 P HPO:skoehler[2019-09-07];HPO:probinson[2022-10-31] +OMIM:300148 Mehmo syndrome HP:0000252 PMID:28055140 PCS 9/9 male P HP:probinson[2018-04-15] +OMIM:616897 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type HP:0000252 PMID:26365339 PCS P HPO:probinson[2017-06-26] +OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy HP:0000252 PMID:30275004;PMID:29691655;PMID:26539891 PCS 7/7 P HPO:probinson[2022-08-14];HPO:probinson[2022-08-14];HPO:probinson[2022-08-14] +OMIM:618939 Treacher-Collins syndrome 4 HP:0000252 PMID:31649276 PCS 1/6 P HPO:probinson[2020-08-31] +OMIM:611182 Congenital disorder of glycosylation, type IIh HP:0000252 PMID:28619360 PCS HP:0011463 1/1 P HPO:probinson[2019-07-06] +OMIM:616418 Hypomagnesemia, seizures, and mental retardation HP:0000252 OMIM:616418 TAS P HPO:skoehler[2015-07-05] +OMIM:615926 Webb-Dattani syndrome HP:0000252 OMIM:615926 TAS P HPO:skoehler[2014-08-24] +OMIM:619701 Yoon-Bellen neurodevelopmental syndrome HP:0000252 PMID:28017472 PCS 1/1 P HPO:probinson[2022-03-19] +OMIM:251300 Galloway-mowat syndrome 1 HP:0000252 PMID:26123727 PCS 13/15 P HPO:iea[2009-02-17] +OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter HP:0000252 OMIM:617807 IEA P HPO:skoehler[2019-04-18] +OMIM:616034 2,4-Dienoyl-Coa reductase deficiency HP:0000252 OMIM:616034 TAS P HPO:skoehler[2015-01-04] +OMIM:616460 Mental retardation, autosomal recessive 50 HP:0000252 OMIM:616460 TAS P HPO:skoehler[2015-08-02] +OMIM:151050 Lenz-Majewski hyperostotic dwarfism HP:0000252 OMIM:151050 TAS HP:0040283 P HPO:skoehler[2014-02-25] +OMIM:277470 Pontocerebellar hypoplasia, type 2A HP:0000252 PMID:18711368 PCS P HPO:iea[2009-02-17];HPO:probinson[2022-09-24] +DECIPHER:70 2p15-16.1 microdeletion syndrome HP:0000252 DECIPHER:70 IEA P HPO:skoehler[2013-05-29] +OMIM:614255 Mental retardation, autosomal dominant 9 HP:0000252 OMIM:614255 TAS P HPO:skoehler[2015-10-05] +OMIM:617930 Chromosome 1p35 deletion syndrome HP:0000252 OMIM:617930 IEA HP:0040284 P HPO:skoehler[2019-04-18] +OMIM:614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis HP:0000252 OMIM:614813 TAS HP:0003581 P HPO:skoehler[2012-11-16];HPO:probinson[2021-10-20] +OMIM:616212 Lissencephaly 6, with microcephaly HP:0000252 PMID:25521379 PCS 5/5 P HPO:skoehler[2015-02-22];HPO:probinson[2021-05-11] +OMIM:614559 Infantile cerebellar-retinal degeneration HP:0000252 PMID:22405087 PCS 4/8 P HPO:probinson[2021-06-25] +OMIM:301950 Branchial arch syndrome, X-linked HP:0000252 OMIM:301950 IEA P HPO:iea[2009-02-17] +OMIM:608278 Growth failure, microcephaly, mental retardation, cataracts, largejoint contractures, osteoporosis, cortical dysplasia, and cerebellaratrophy HP:0000252 OMIM:608278 IEA P HPO:iea[2009-02-17] +OMIM:613989 Dyskeratosis congenita, autosomal dominant 2 HP:0000252 OMIM:613989 TAS P HPO:skoehler[2012-11-18] +OMIM:231550 Achalasia-Addisonianism-Alacrima syndrome HP:0000252 OMIM:231550 IEA P HPO:iea[2009-02-17] +OMIM:619725 Neurodevelopmental disorder with or without variable movement or behavioral abnormalities HP:0000252 PMID:33242881 PCS 1/10 P HPO:probinson[2022-03-05] +OMIM:618201 Epileptic encephalopathy, early infantile, 68 HP:0000252 OMIM:618201 IEA HP:0040284 P HPO:skoehler[2019-04-18] +OMIM:616938 Coffin-Siris syndrome 5 HP:0000252 OMIM:616938 TAS P HPO:skoehler[2017-07-13] +OMIM:619884 Osteoporosis, childhood- or juvenile-onset, with developmental delay HP:0000252 PMID:34450031 PCS 4/6 P HPO:probinson[2022-08-14] +OMIM:618348 Galloway-Mowat syndrome 7 HP:0000252 PMID:28280135;PMID:28117080 PCS 8/8 P HPO:skoehler[2019-04-18];HPO:probinson[2021-07-10];HPO:probinson[2021-07-10] +OMIM:600462 Myopathy, lactic acidosis, and sideroblastic anemia 1 HP:0000252 OMIM:600462 IEA P HPO:iea[2009-02-17] +OMIM:617452 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies HP:0000252 PMID:28343629 PCS HP:0003593 9/12 P HPO:skoehler[2017-07-13];HP:probinson[2019-05-03] +OMIM:264480 Pseudotrisomy 13 syndrome HP:0000252 OMIM:264480 IEA P HPO:iea[2009-02-17] +OMIM:616051 Microcephaly 13, primary, autosomal recessive HP:0000252 PMID:24748105 PCS 2/2 P HPO:skoehler[2014-11-26];HPO:probinson[2022-03-26] +OMIM:616038 Neu-Laxova syndrome 2 HP:0000252 PMID:25152457 PCS 12/12 P HPO:skoehler[2014-11-26];HPO:probinson[2022-09-27] +OMIM:157170 Holoprosencephaly 2 HP:0000252 PMID:10369266 PCS 2/4 P HPO:iea[2009-02-17];HPO:probinson[2022-09-02] +OMIM:225753 Pontocerebellar hypoplasia, type 4 HP:0000252 OMIM:225753 IEA P HPO:iea[2009-02-17] +OMIM:618087 Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits HP:0000252 OMIM:618087 IEA HP:0040284 P HPO:skoehler[2019-04-18] +OMIM:610680 Holoprosencephaly, recurrent infections, and monocytosis HP:0000252 OMIM:610680 IEA P HPO:iea[2009-02-17] +OMIM:234100 Hallermann-Streiff syndrome HP:0000252 OMIM:234100 IEA P HPO:probinson[2009-02-17] +OMIM:617105 Epileptic encephalopathy, early infantile, 41 HP:0000252 PMID:27476654 PCS 1/3 P HPO:skoehler[2017-07-13];HPO:probinson[2022-12-13] +OMIM:619318 Oculogastrointestinal neurodevelopmental syndrome HP:0000252 PMID:32885237 PCS 1/5 P HPO:probinson[2021-07-06] +OMIM:613792 Chromosome 3pter-p25 deletion syndrome HP:0000252 PMID:3443553 PCS 14/19 P HPO:skoehler[2012-10-17];HPO:probinson[2022-06-25] +OMIM:617126 Alazami-Yuan syndrome HP:0000252 PMID:25574841 PCS 1/4 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-27] +OMIM:308300 Incontinentia pigmenti HP:0000252 OMIM:308300 IEA P HPO:iea[2009-02-17] +OMIM:300166 Microphthalmia, syndromic 2 HP:0000252 PMID:15004558 PCS 1/11 P HPO:skoehler[2015-02-22];HPO:probinson[2020-10-13] +OMIM:620086 Intellectual developmental disorder with ocular anomalies and distinctive facial features HP:0000252 PMID:36067766 PCS 2/5 P HPO:probinson[2022-12-04];HPO:probinson[2022-12-04] +OMIM:247200 Miller-Dieker lissencephaly syndrome HP:0000252 PMID:1671808 PCS 17/25 P HPO:iea[2009-02-17] +OMIM:211180 Bowen-Conradi syndrome HP:0000252 OMIM:211180 IEA P HPO:iea[2009-02-17] +OMIM:619013 Rajab interstitial lung disease with brain calcifications 2 HP:0000252 PMID:31355908 PCS 1/1 P HPO:probinson[2020-12-04] +OMIM:617599 Epileptic encephalopathy, early infantile, 55 HP:0000252 OMIM:617599 IEA P HPO:skoehler[2019-04-18] +OMIM:304050 Aicardi syndrome HP:0000252 OMIM:304050 IEA P HPO:iea[2009-02-17] +OMIM:245349 Pyruvate dehydrogenase e3-binding protein deficiency HP:0000252 OMIM:245349 IEA P HPO:iea[2009-02-17] +OMIM:300000 Opitz GBBB syndrome HP:0000252 PMID:15121778 PCS 2/7 P HPO:probinson[2022-04-28] +OMIM:617755 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies HP:0000252 PMID:28942966 PCS 7/9 P HPO:skoehler[2019-04-18];HPO:probinson[2020-10-13] +OMIM:278750 Xeroderma pigmentosum, Variant type NOT HP:0000252 OMIM:278750 TAS P HPO:probinson[2012-08-01] +OMIM:618229 Mitochondrial complex I deficiency, nuclear type 7 HP:0000252 OMIM:618229 IEA P HPO:skoehler[2019-04-18] +OMIM:615866 Coffin-Siris syndrome 9 HP:0000252 PMID:24886874 PCS 2/2 P HPO:skoehler[2015-09-14];HPO:probinson[2022-04-12] +OMIM:614222 Warburg micro syndrome 3 HP:0000252 OMIM:614222 TAS P HPO:probinson[2013-08-10] +OMIM:607317 Spinocerebellar ataxia, autosomal recessive 4 HP:0000252 OMIM:607317 IEA HP:0040284 P HPO:skoehler[2019-04-18] +OMIM:619325 Coffin-Siris syndrome 12 HP:0000252 PMID:33232675 PCS 3/12 P HPO:probinson[2021-06-24] +OMIM:615502 Intellectual developmental disorder, autosomal dominant 21 HP:0000252 PMID:23746550 PCS 3/4 P HPO:skoehler[2013-11-18];HPO:probinson[2019-09-04] +OMIM:619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities HP:0000252 PMID:33824500 PCS 8/17 P HPO:probinson[2021-10-16] +OMIM:617598 Mosaic variegated aneuploidy syndrome 3 HP:0000252 PMID:28553959 PCS 3/6 P HPO:skoehler[2019-04-18];HPO:probinson[2022-11-27] +OMIM:615071 Alazami syndrome HP:0000252 PMID:22865833 PCS 4/9 P HPO:skoehler[2013-06-12];HPO:probinson[2023-01-21] +OMIM:608885 Stomatin-Deficient cryohydrocytosis with neurologic defects HP:0000252 OMIM:608885 TAS P HPO:skoehler[2015-12-30] +OMIM:615351 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 HP:0000252 PMID:23768512 PCS 1/4 P HPO:skoehler[2013-10-06];HPO:probinson[2022-11-05] +OMIM:300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia HP:0000252 PMID:19165920 PCS 5/5 P HPO:skoehler[2012-10-14];HPO:probinson[2021-09-06] +OMIM:619224 Mitochondrial complex II deficiency, nuclear type 4 HP:0000252 PMID:27159321 PCS 1/5 P HPO:probinson[2022-04-04] +OMIM:150230 Trichorhinophalangeal syndrome, type II HP:0000252 PMID:23913778 PCS 1/4 P HPO:iea[2009-02-17];HPO:probinson[2022-04-19] +OMIM:614541 Chromosome 16q22 deletion syndrome HP:0000252 PMID:8230159 IEA 3/6 P HPO:probinson[2021-06-26] +OMIM:614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital HP:0000252 OMIM:614748 TAS P HPO:skoehler[2015-08-16] +OMIM:214150 Cerebrooculofacioskeletal syndrome 1 HP:0000252 PMID:10739753 PCS 3/3 P HPO:iea[2009-02-17];HPO:probinson[2022-05-06] +OMIM:619847 Neurodegeneration, childhood-onset, with progressive microcephaly HP:0000252 PMID:34918187 PCS 1/2 P HPO:probinson[2022-06-01] +OMIM:619504 Chopra-Amiel-Gordon syndrome HP:0000252 PMID:33909992 PCS 7/31 P HPO:probinson[2021-09-18] +OMIM:615084 Mitochondrial DNA depletion syndrome 11 HP:0000252 PMID:23313956 PCS 2/6 P HPO:skoehler[2013-02-25];HPO:probinson[2022-11-09] +OMIM:618492 Neurodevelopmental disorder with microcephaly and structural brain anomalies HP:0000252 PMID:31079899 PCS HP:0003577 5/5 P HPO:probinson[2019-07-07] +OMIM:600092 Nivelon-Nivelon-Mabille syndrome HP:0000252 PMID:24784881;PMID:30912300 PCS 4/4 P HP:probinson[2021-10-16];HPO:iea[2009-02-17];HPO:probinson[2021-02-18] +OMIM:614340 Mental retardation, autosomal recessive 27 HP:0000252 PMID:21937992 PCS 4/4 P HPO:skoehler[2014-05-04];HPO:probinson[2022-02-24] +OMIM:617333 Intellectual developmental disorder with dysmorphic facies and ptosis HP:0000252 OMIM:617333 TAS HP:0040283 P HPO:skoehler[2017-07-13] +OMIM:105650 Diamond-Blackfan anemia 1 HP:0000252 PMID:10590074 PCS 1/55 P HPO:skoehler[2010-06-18];HPO:probinson[2019-07-18] +OMIM:619125 Kaya-Barakat-Masson syndrome HP:0000252 PMID:32006098 PCS 5/6 P HPO:probinson[2021-01-07] +OMIM:617061 Mental retardation, autosomal dominant 44 HP:0000252 PMID:26721934;PMID:32109419 PCS 13/19 P HPO:skoehler[2017-07-13];HPO:probinson[2022-03-28];HPO:probinson[2022-04-02] +OMIM:267430 Renal tubular dysgenesis HP:0000252 OMIM:267430 IEA P HPO:iea[2009-02-17] +OMIM:619488 DEGCAGS syndrome HP:0000252 PMID:33875846 PCS 6/13 P HPO:probinson[2021-10-04] +OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities HP:0000252 PMID:25558065 PCS 3/3 P HPO:skoehler[2019-04-18];HPO:probinson[2022-11-28] +OMIM:180870 Ruvalcaba syndrome HP:0000252 OMIM:180870 IEA P HPO:iea[2009-02-17] +OMIM:156610 Skin creases, congenital symmetric circumferential, 1 HP:0000252 OMIM:156610 TAS P HPO:skoehler[2015-12-30] +OMIM:300243 Mental retardation, x-linked syndromic, Christianson type HP:0000252 PMID:18342287 PCS 10/11 P HPO:iea[2009-02-17];HPO:probinson[2020-12-10] +OMIM:616723 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type HP:0000252 OMIM:616723 TAS P HPO:skoehler[2015-12-30] +OMIM:259410 Osteogenesis imperfecta congenita, microcephaly, and cataracts HP:0000252 OMIM:259410 IEA P HPO:iea[2009-02-17] +OMIM:210720 Microcephalic osteodysplastic primordial dwarfism, type II HP:0000252 OMIM:210720 TAS P HPO:probinson[2009-02-17] +OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36 HP:0000252 PMID:32969598 PCS 1/3 P HPO:probinson[2021-02-19] +OMIM:270750 Spastic paraplegia 23 HP:0000252 PMID:14681889 PCS 2/4 P HPO:iea[2009-02-17];HPO:probinson[2022-12-03] +OMIM:185480 Suprabulbar paresis, congenital HP:0000252 OMIM:185480 IEA P HPO:iea[2009-02-17] +OMIM:602541 Muscular dystrophy, congenital, Megaconial type HP:0000252 OMIM:602541 TAS P HPO:skoehler[2012-10-17] +OMIM:611091 Intellectual developmental disorder, autosomal recessive 5 HP:0000252 PMID:22541559 PCS 8/10 P HPO:skoehler[2012-10-17];HPO:probinson[2022-06-18] +OMIM:613489 Congenital disorder of glycosylation, type IIj HP:0000252 OMIM:613489 TAS HP:0040283 P HPO:skoehler[2012-11-18] +OMIM:147250 Solitary median maxillary central incisor HP:0000252 OMIM:147250;PMID:11471164 PCS 8/24 P HPO:iea[2009-10-30];HPO:iea[2009-02-17] +OMIM:614225 Warburg micro syndrome 2 HP:0000252 PMID:20967465 PCS 1/1 P HPO:probinson[2013-08-10];HPO:probinson[2022-12-14] +OMIM:616763 Leukodystrophy and acquired microcephaly with or without dystonia HP:0000252 PMID:26573021 PCS 5/5 P HPO:probinson[2017-06-17] +OMIM:617051 Neurodevelopmental disorder with microcephaly and gray sclerae HP:0000252 PMID:27055666 PCS 2/3 P HPO:skoehler[2017-07-13];HPO:probinson[2021-02-16] +OMIM:619297 KINSSHIP syndrome HP:0000252 PMID:33961779 PCS 11/18 P HPO:probinson[2021-07-05] +OMIM:309590 Mental retardation, x-linked syndromic, Turner type HP:0000252 OMIM:309590 IEA P HPO:skoehler[2019-09-07] +OMIM:614219 Adams-Oliver syndrome 2 HP:0000252 OMIM:614219 TAS P HPO:skoehler[2012-10-17] +OMIM:617235 Myoclonus, intractable, neonatal HP:0000252 OMIM:617235 TAS P HPO:skoehler[2017-07-13] +OMIM:613606 Forsythe-Wakeling syndrome HP:0000252 OMIM:613606 TAS P HPO:skoehler[2012-10-17] +OMIM:609308 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 HP:0000252 OMIM:609308 IEA P HPO:iea[2009-02-17] +OMIM:164280 Feingold syndrome 1 HP:0000252 OMIM:164280 IEA P HPO:iea[2009-02-17] +OMIM:180849 Rubinstein-Taybi syndrome 1 HP:0000252 PMID:35464843;PMID:10573006 PCS 7/9 P HPO:iea[2009-02-17];HPO:probinson[2022-05-06];HPO:probinson[2022-05-06];HPO:probinson[2022-05-06] +OMIM:268300 Roberts syndrome HP:0000252 OMIM:268300 IEA P HPO:iea[2009-02-17] +OMIM:301022 Neurodevelopmental disorder, X-linked, with craniofacial abnormalities HP:0000252 OMIM:301022 IEA P HPO:skoehler[2019-04-18] +OMIM:619694 Developmental delay with variable neurologic and brain abnormalities HP:0000252 PMID:32820033 PCS 7/10 P HPO:probinson[2022-03-20] +OMIM:613803 Meier-Gorlin syndrome 3 HP:0000252 PMID:21358632 PCS 2/3 P HPO:skoehler[2012-10-17];HPO:probinson[2022-03-26] +OMIM:267750 Knobloch syndrome, type 1 HP:0000252 PMID:17546652 PCS 1/1 P HP:probinson[2022-03-12];HPO:probinson[2022-03-12] +OMIM:613544 Chromosome 6q11-q14 deletion syndrome HP:0000252 PMID:20685673 PCS 0/4 P HPO:probinson[2022-11-02] +OMIM:164200 Oculodentodigital dysplasia HP:0000252 OMIM:164200 IEA P HPO:probinson[2009-02-17] +OMIM:618284 Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum HP:0000252 OMIM:618284 IEA P HPO:skoehler[2019-04-18] +OMIM:613744 Spastic paraplegia 51, autosomal recessive HP:0000252 OMIM:613744 TAS P HPO:skoehler[2012-10-17] +OMIM:607932 Microphthalmia, syndromic 6 HP:0000252 PMID:18252212 PCS P HPO:iea[2012-04-24];HPO:probinson[2022-02-17] +OMIM:617951 Leukodystrophy, hypomyelinating, 15 HP:0000252 PMID:29576217 PCS 1/4 P HPO:skoehler[2019-04-18];HPO:probinson[2022-05-26] +OMIM:618840 Alopecia-mental retardation syndrome 4 HP:0000252 PMID:30723320 PCS 3/11 P HPO:probinson[2020-07-23] +OMIM:617799 Intellectual developmental disorder, autosomal dominant 54 HP:0000252 PMID:29100089 PCS 5/10 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-03] +OMIM:618106 Intellectual developmental disorder, autosomal dominant 58 HP:0000252 OMIM:618106 IEA P HPO:skoehler[2018-10-08] +OMIM:616335 Microcephaly and chorioretinopathy, autosomal recessive, 3 HP:0000252 OMIM:616335 TAS P HPO:skoehler[2015-06-22] +OMIM:251290 Band-Like calcification with simplified gyration and polymicrogyria HP:0000252 OMIM:251290 IEA P HPO:skoehler[2010-06-20] +OMIM:618298 Developmental and epileptic encephalopathy 70 HP:0000252 PMID:23033978 PCS 1/1 P HPO:skoehler[2019-04-18];HPO:probinson[2021-04-25] +OMIM:204750 Alpha-aminoadipic and alpha-ketoadipic aciduria HP:0000252 PMID:23141293 PCS 1/2 P HPO:skoehler[2014-11-26];HPO:probinson[2021-05-30] +OMIM:150260 Laryngeal abductor paralysis HP:0000252 OMIM:150260 IEA P HPO:iea[2009-02-17] +OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1 HP:0000252 OMIM:208085 IEA P HPO:skoehler[2010-06-18] +OMIM:139210 Myhre syndrome HP:0000252 OMIM:139210 IEA P HPO:iea[2009-02-17] +OMIM:616140 Leukodystrophy, hypomyelinating, 9 HP:0000252 OMIM:616140 TAS P HPO:skoehler[2015-01-04] +OMIM:619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities HP:0000252 PMID:33015733 PCS 5/5 P HPO:probinson[2021-02-01] +OMIM:269000 Sc phocomelia syndrome HP:0000252 OMIM:269000 IEA P HPO:iea[2009-02-17] +OMIM:617119 Bardet-Biedl syndrome 22 HP:0000252 PMID:27486776 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2021-09-09] +OMIM:618160 Isolated growth hormone deficiency, type V HP:0000252 OMIM:618160 IEA P HPO:skoehler[2019-04-18] +OMIM:194190 Wolf-Hirschhorn syndrome HP:0000252 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=whs TAS HP:0040282 P HPO:iea[2009-02-17] +OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb HP:0000252 PMID:18784092 PCS 14/21 P HPO:skoehler[2012-11-16];HPO:probinson[2022-11-08] +OMIM:617330 Hypotonia, ataxia, and delayed development syndrome HP:0000252 PMID:28017370 PCS 2/8 P HPO:skoehler[2017-07-13];HPO:probinson[2020-10-09] +OMIM:615716 Hyperphosphatasia with impaired intellectual development syndrome 4 HP:0000252 PMID:24439110 PCS 3/5 P HPO:skoehler[2014-08-24];HPO:probinson[2023-01-15] +OMIM:619603 Galloway-Mowat syndrome 9 HP:0000252 PMID:31481669 PCS 11/11 P HPO:probinson[2022-02-01] +OMIM:600546 Intrauterine growth retardation with increased mitomycin C sensitivity HP:0000252 OMIM:600546 PCS P HPO:probinson[2012-03-16] +OMIM:620072 Diamond-Blackfan anemia 21 HP:0000252 PMID:35213692 PCS 1/6 P HPO:probinson[2022-11-24] +OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 HP:0000252 PMID:15637732 PCS 1/2 P HPO:iea[2009-02-17];HPO:probinson[2021-05-09] +OMIM:610678 Combined oxidative phosphorylation deficiency 4 HP:0000252 PMID:17160893 TAS P HPO:probinson[2013-04-01] +OMIM:619539 Neuroocular syndrome HP:0000252 PMID:29556724 PCS 2/3 P HPO:probinson[2021-10-23] +OMIM:101805 Acrofacial dysostosis, Catania type HP:0000252 OMIM:101805 TAS P HPO:skoehler[2017-07-13] +OMIM:227650 Fanconi anemia HP:0000252 OMIM:227650 IEA P HPO:iea[2009-02-17] +OMIM:147770 Johnson neuroectodermal syndrome HP:0000252 OMIM:147770 TAS HP:0040283 P HPO:skoehler[2015-05-31] +OMIM:615851 Pontocerebellar hypoplasia, type 2E HP:0000252 PMID:24577744 PCS P HPO:skoehler[2014-06-24];HPO:probinson[2020-12-13] +OMIM:619833 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities HP:0000252 PMID:35108495 PCS 3/6 P HPO:probinson[2022-07-03] +OMIM:618349 Galloway-Mowat syndrome 8 HP:0000252 PMID:30427554 PCS 1/4 P HPO:skoehler[2019-04-18];HPO:probinson[2022-12-21] +OMIM:300831 Ck syndrome HP:0000252 OMIM:300831 TAS P HPO:skoehler[2012-10-14] +OMIM:251200 Microcephaly, primary autosomal recessive, 1 HP:0000252 OMIM:251200 IEA P HPO:iea[2009-02-17] +OMIM:619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness HP:0000252 PMID:21427441 PCS 1/1 P HPO:probinson[2021-05-30];HPO:probinson[2021-05-30] +OMIM:616449 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000252 OMIM:616449 TAS P HPO:skoehler[2015-07-26] +OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation HP:0000252 OMIM:604314 IEA P HPO:skoehler[2018-10-08] +OMIM:612936 Spastic paraplegia 50, autosomal recessive HP:0000252 OMIM:612936 IEA P HPO:skoehler[2010-06-19] +OMIM:605013 MICROHYDRANENCEPHALY HP:0000252 PMID:22526350 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2022-08-07] +OMIM:190420 Triglyceride storage disease, type I HP:0000252 OMIM:190420 TAS P HPO:probinson[2009-02-17] +OMIM:606593 Lig4 syndrome HP:0000252 OMIM:606593 IEA P HPO:skoehler[2019-04-18] +OMIM:212066 Congenital disorder of glycosylation, type IIa HP:0000252 OMIM:212066 TAS P HPO:skoehler[2012-10-17] +OMIM:618947 Arthrogryposis multiplex congenita 5 HP:0000252 PMID:30244176 PCS 1/1 P HPO:probinson[2020-08-14];HPO:probinson[2020-08-14] +OMIM:618687 Intellectual developmental disorder with short stature and behavioral abnormalities HP:0000252 PMID:31607425 PCS 2/5 P HPO:probinson[2020-06-27];HPO:probinson[2020-06-27] +OMIM:300263 Siderius X-linked mental retardation syndrome HP:0000252 PMID:17594395 PCS 1/1 P HPO:probinson[2021-09-30] +OMIM:620027 Neurodevelopmental disorder with microcephaly, short stature, and speech delay HP:0000252 PMID:35298461 PCS 7/8 P HPO:probinson[2022-10-05] +OMIM:156200 Mental retardation, autosomal dominant 1 HP:0000252 OMIM:156200 TAS P HPO:skoehler[2012-11-18] +OMIM:616268 Arboleda-Tham syndrome HP:0000252 PMID:32041641 PCS 5/5 P HPO:skoehler[2015-05-31];HPO:probinson[2020-08-02] +OMIM:619695 Rauch-Steindl syndrome HP:0000252 PMID:29760529;PMID:29892088;PMID:31171569 PCS 6/6 P HPO:probinson[2022-03-01];HPO:probinson[2022-03-01];HPO:probinson[2022-03-01] +OMIM:619312 Radio-Tartaglia syndrome HP:0000252 PMID:33596411 PCS 4/32 P HPO:probinson[2021-07-06] +OMIM:609037 Mental retardation with optic atrophy, facial dysmorphism, microcephaly,and short stature HP:0000252 PMID:12522796 PCS 2/2 P HPO:iea[2009-02-17];HPO:probinson[2022-09-06] +OMIM:613156 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2 HP:0000252 PMID:17634419 PCS 4/4 P HPO:skoehler[2012-10-17];HPO:probinson[2023-01-26] +OMIM:617595 Birk-Landau-Perez syndrome HP:0000252 PMID:34716203 PCS 1/1 P HPO:probinson[2022-07-16] +OMIM:616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart HP:0000252 PMID:27087320 PCS 2/9 P HPO:probinson[2019-08-29] +OMIM:308350 Developmental and epileptic encephalopathy 1 HP:0000252 PMID:21108397;PMID:11889467;OMIM:308350 PCS 13/13 P HPO:iea[2009-02-17];HPO:probinson[2022-06-22];HPO:probinson[2021-06-23] +OMIM:617101 Intellectual developmental disorder with persistence of fetal hemoglobin HP:0000252 OMIM:617101 TAS P HPO:skoehler[2017-07-13] +OMIM:222765 Rhizomelic chondrodysplasia punctata, type 2 HP:0000252 OMIM:222765 IEA P HPO:iea[2009-02-17] +OMIM:617157 Short stature, brachydactyly, intellectual developmental disability, and seizures HP:0000252 OMIM:617157 TAS P HPO:skoehler[2017-07-13] +OMIM:616459 Al-Raqad syndrome HP:0000252 OMIM:616459 TAS P HPO:skoehler[2015-08-02] +OMIM:601110 Congenital disorder of glycosylation, type Id HP:0000252 PMID:10581255 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2023-01-26] +OMIM:619239 Neurodevelopmental disorder with or without autism or seizures HP:0000252 PMID:30311385 PCS 1/1 P HPO:probinson[2021-05-11] +OMIM:612289 Fontaine progeroid syndrome HP:0000252 PMID:29100093 PCS 3/5 P HP:probinson[2018-04-29] +OMIM:129900 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1 HP:0000252 OMIM:129900 IEA P HPO:iea[2009-02-17] +OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome HP:0000252 OMIM:612513 IEA P HPO:skoehler[2010-06-19] +OMIM:614345 Intellectual developmental disorder, autosomal recessive 24 HP:0000252 OMIM:614345 TAS P HPO:skoehler[2017-07-13] +OMIM:309580 Intellectual disability-hypotonic facies syndrome, X-linked HP:0000252 OMIM:309580 IEA P HPO:iea[2009-02-17] +OMIM:617404 Muscular dystrophy, congenital, with cataracts and intellectual disability HP:0000252 OMIM:617404 TAS 2/12 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-27] +OMIM:300387 Mental retardation, X-linked 63 HP:0000252 PMID:11889465 PCS 1/8 P HPO:skoehler[2017-07-13];HPO:probinson[2021-08-30] +OMIM:300887 Linear skin defects with multiple congenital anomalies 2 HP:0000252 OMIM:300887 IEA HP:0040280 P HPO:skoehler[2013-01-11] +OMIM:300337 Hypomelanosis of ito HP:0000252 OMIM:300337 IEA P HPO:iea[2009-02-17] +OMIM:261540 Peters-Plus syndrome HP:0000252 OMIM:261540 IEA P HPO:iea[2009-02-17] +OMIM:618885 Congenital disorder of glycosylation, type IIt HP:0000252 PMID:32293671 PCS 2/7 P HPO:probinson[2020-06-23];HPO:probinson[2020-06-23] +OMIM:261600 Phenylketonuria HP:0000252 OMIM:261600 IEA P HPO:iea[2009-02-17] +OMIM:201475 Very long-chain acyl-CoA dehydrogenase deficiency HP:0000252 PMID:4022672 PCS 2/3 P HPO:probinson[2021-07-03] +OMIM:610253 Kleefstra syndrome HP:0000252 PMID:19264732 PCS 8/22 P HPO:sdoelken[2009-02-17] +OMIM:616811 Combined oxidative phosphorylation deficiency 29 HP:0000252 PMID:26626369 PCS P HPO:probinson[2017-06-18] +OMIM:251230 Microcephaly-Micromelia syndrome HP:0000252 OMIM:251230 IEA P HPO:iea[2009-02-17] +OMIM:619148 Chromosome 13q33-q34 deletion syndrome HP:0000252 PMID:19363806 PCS 8/11 P HPO:probinson[2021-03-13] +OMIM:201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis HP:0000252 OMIM:201750 IEA P HPO:iea[2009-02-17] +OMIM:614039 Cortical dysplasia, complex, with other brain malformations 1 HP:0000252 PMID:20829227 PCS 1/9 P HPO:skoehler[2012-11-21];HPO:probinson[2022-02-15] +OMIM:616943 Trichothiodystrophy 6, nonphotosensitive HP:0000252 OMIM:616943 TAS P HPO:skoehler[2017-07-13] +OMIM:208900 Ataxia-telangiectasia HP:0000252 PMID:22563157 PCS 1/2 P HPO:probinson[2022-05-09] +OMIM:609637 Holoprosencephaly 5 HP:0000252 OMIM:609637 TAS P PATOC:GVG[2012-04-24]; PATOC:PS[2012-04-24] +OMIM:223370 Dubowitz syndrome HP:0000252 PMID:18990984 PCS 1/1 P HPO:iea[2009-02-17];HPO:probinson[2022-09-12] +OMIM:258865 Orofaciodigital syndrome IX HP:0000252 OMIM:258865 IEA P HPO:skoehler[2019-04-18] +OMIM:620083 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects HP:0000252 PMID:29938792 PCS 1/1 P HPO:probinson[2022-12-04] +OMIM:620141 Developmental delay, language impairment, and ocular abnormalities HP:0000252 PMID:35047857 PCS 6/7 P HPO:probinson[2022-12-12] +OMIM:614851 Seckel syndrome 7 HP:0000252 OMIM:614851 TAS P HPO:skoehler[2012-12-06] +OMIM:616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 NOT HP:0000252 PMID:27040692 PCS P HPO:probinson[2017-06-24] +OMIM:617478 Structural heart defects and renal anomalies syndrome HP:0000252 PMID:28318500 PCS HP:0003623 1/4 P HPO:skoehler[2017-07-13];HPO:probinson[2019-09-03] +OMIM:610829 Holoprosencephaly 9 HP:0000252 PMID:14581620 PCS P HPO:iea[2012-04-24] +OMIM:617301 Glycine encephalopathy with normal serum glycine HP:0000252 OMIM:617301 TAS HP:0040283 P HPO:skoehler[2017-07-13] +OMIM:615272 Fanconi anemia, complementation group Q HP:0000252 PMID:23623386 PCS 1/2 P HPO:skoehler[2013-08-18];HPO:probinson[2022-03-15] +OMIM:614037 Leukotriene C4 synthase deficiency HP:0000252 PMID:9820300 PCS P HPO:probinson[2013-12-15] +OMIM:618097 Microcephaly, growth restriction, and increased sister chromatid exchange 2 HP:0000252 PMID:30057030 PCS 10/10 P HPO:skoehler[2019-04-18];HPO:probinson[2022-11-07] +OMIM:617082 Congenital disorder of glycosylation, type IAA HP:0000252 OMIM:617082 TAS P HPO:skoehler[2017-07-13] +OMIM:619758 Tessadori-van Haaften neurodevelopmental syndrome 1 HP:0000252 PMID:28920961 PCS 3/3 P HPO:probinson[2022-04-17] +OMIM:224690 Meier-Gorlin syndrome 1 HP:0000252 OMIM:224690 IEA P HPO:iea[2009-02-17] +OMIM:610536 Mandibulofacial dysostosis, Guion-Almeida type HP:0000252 OMIM:610536 IEA P HPO:iea[2009-02-17] +OMIM:274270 Dihydropyrimidine dehydrogenase deficiency HP:0000252 PMID:10071185 PCS 3/22 P HPO:skoehler[2010-06-18];HPO:probinson[2022-06-11] +OMIM:142945 Holoprosencephaly 3 HP:0000252 OMIM:142945 IEA P HPO:skoehler[2019-09-07] +OMIM:618076 Neurodevelopmental disorder with spasticity and poor growth HP:0000252 OMIM:618076 IEA P HPO:skoehler[2019-04-18] +OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures HP:0000252 PMID:20890276 PCS 1/6 P HPO:skoehler[2019-04-18];HPO:probinson[2022-06-16] +OMIM:210600 Seckel syndrome 1 HP:0000252 OMIM:210600 IEA P HPO:iea[2009-02-17] +OMIM:618958 Combined oxidative phosphorylation deficiency 47 HP:0000252 PMID:30566640 PCS 1/1 P HPO:probinson[2020-08-27] +OMIM:618479 Cerebellar, ocular, craniofacial, and genital syndrome HP:0000252 OMIM:618479 IEA HP:0040284 P HPO:skoehler[2019-09-07] +OMIM:252150 Molybdenum cofactor deficiency, complementation group A HP:0000252 OMIM:252150 TAS P HPO:skoehler[2014-01-28] +OMIM:618460 Khan-Khan-Katsanis syndrome HP:0000252 OMIM:618460 IEA P HPO:skoehler[2019-09-07] +OMIM:210900 Bloom syndrome HP:0000252 OMIM:210900 IEA P HPO:iea[2009-02-17] +OMIM:616258 Meckel syndrome 12 HP:0000252 OMIM:616258 TAS P HPO:skoehler[2015-03-22] +ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency HP:0000252 ORPHA:395 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:199318 15q13.3 microdeletion syndrome HP:0000252 ORPHA:199318 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type HP:0000252 ORPHA:2719 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type HP:0000252 ORPHA:2728 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2729 Okamoto syndrome HP:0000252 ORPHA:2729 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2714 Oculo-palato-cerebral syndrome HP:0000252 ORPHA:2714 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:97297 Bohring-Opitz syndrome HP:0000252 ORPHA:97297 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation HP:0000252 ORPHA:438216 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type HP:0000252 ORPHA:2707 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:101070 Bilateral frontoparietal polymicrogyria HP:0000252 ORPHA:101070 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:73273 Growth delay due to insulin-like growth factor I resistance HP:0000252 ORPHA:73273 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency HP:0000252 ORPHA:73272 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:26 Methylmalonic acidemia with homocystinuria HP:0000252 ORPHA:26 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0000252 ORPHA:20 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:29 Mevalonic aciduria HP:0000252 ORPHA:29 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome HP:0000252 ORPHA:444077 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:444072 Cerebellar-facial-dental syndrome HP:0000252 ORPHA:444072 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:370968 Congenital muscular dystrophy with intellectual disability HP:0000252 ORPHA:370968 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:40366 Acitretin/etretinate embryopathy HP:0000252 ORPHA:40366 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome HP:0000252 ORPHA:457351 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome HP:0000252 ORPHA:73246 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:322 Exstrophy-epispadias complex HP:0000252 ORPHA:322 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:101000 Autosomal recessive spastic paraplegia type 20 HP:0000252 ORPHA:101000 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:11 Pentasomy X HP:0000252 ORPHA:11 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria HP:0000252 ORPHA:17 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:370980 Congenital muscular dystrophy without intellectual disability HP:0000252 ORPHA:370980 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:317 Erythrokeratodermia variabilis HP:0000252 ORPHA:317 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:3199 Stimmler syndrome HP:0000252 ORPHA:3199 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome HP:0000252 ORPHA:3186 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement HP:0000252 ORPHA:370959 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:3173 Infantile spasms-broad thumbs syndrome HP:0000252 ORPHA:3173 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:280195 Septopreoptic holoprosencephaly HP:0000252 ORPHA:280195 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:85293 X-linked intellectual disability, Cabezas type HP:0000252 ORPHA:85293 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:85290 X-linked intellectual disability, Wilson type HP:0000252 ORPHA:85290 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:370924 STT3B-CDG HP:0000252 ORPHA:370924 TAS HP:0040280 P ORPHA:orphadata[2023-01-27] +ORPHA:370927 SSR4-CDG HP:0000252 ORPHA:370927 TAS HP:0040280 P ORPHA:orphadata[2023-01-27] +ORPHA:85278 Christianson syndrome HP:0000252 ORPHA:85278 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability HP:0000252 ORPHA:85279 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:85284 BRESEK syndrome HP:0000252 ORPHA:85284 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome HP:0000252 ORPHA:457395 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome HP:0000252 ORPHA:85280 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:85282 MEHMO syndrome HP:0000252 ORPHA:85282 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:370930 XYLT1-CDG HP:0000252 ORPHA:370930 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:85273 X-linked intellectual disability, Abidi type HP:0000252 ORPHA:85273 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:63862 Schisis association HP:0000252 ORPHA:63862 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:99812 LIG4 syndrome HP:0000252 ORPHA:99812 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:3265 Humero-radial synostosis HP:0000252 ORPHA:3265 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome HP:0000252 ORPHA:3268 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:263516 Progressive myoclonic epilepsy type 3 HP:0000252 ORPHA:263516 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:447980 19p13.3 microduplication syndrome HP:0000252 ORPHA:447980 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:83472 CAMOS syndrome HP:0000252 ORPHA:83472 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:3255 Filippi syndrome HP:0000252 ORPHA:3255 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:263501 COG4-CDG HP:0000252 ORPHA:263501 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:3242 Renpenning syndrome HP:0000252 ORPHA:3242 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:84 Fanconi anemia HP:0000252 ORPHA:84 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:401768 Proximal myopathy with extrapyramidal signs HP:0000252 ORPHA:401768 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:85201 Genitopatellar syndrome HP:0000252 ORPHA:85201 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:72 Angelman syndrome HP:0000252 ORPHA:72 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:99843 Leukocyte adhesion deficiency type II HP:0000252 ORPHA:99843 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:46 Adenylosuccinate lyase deficiency HP:0000252 ORPHA:46 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome HP:0000252 ORPHA:3207 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome HP:0000252 ORPHA:3201 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:59 Allan-Herndon-Dudley syndrome HP:0000252 ORPHA:59 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1497 X-linked complicated corpus callosum dysgenesis HP:0000252 ORPHA:1497 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1496 Corpus callosum agenesis-neuronopathy syndrome HP:0000252 ORPHA:1496 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome HP:0000252 ORPHA:1495 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:50 Aicardi syndrome HP:0000252 ORPHA:50 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:51 Aicardi-Goutières syndrome HP:0000252 ORPHA:51 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1466 COFS syndrome HP:0000252 ORPHA:1466 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1465 Coffin-Siris syndrome HP:0000252 ORPHA:1465 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form HP:0000252 ORPHA:79350 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form HP:0000252 ORPHA:79351 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:177907 Prader-Willi syndrome due to translocation HP:0000252 ORPHA:177907 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome HP:0000252 ORPHA:2787 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1445 Ring chromosome 21 syndrome HP:0000252 ORPHA:1445 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome HP:0000252 ORPHA:2772 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1449 Ring chromosome 7 syndrome HP:0000252 ORPHA:1449 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1448 Ring chromosome 6 syndrome HP:0000252 ORPHA:1448 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1446 Ring chromosome 22 syndrome HP:0000252 ORPHA:1446 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome HP:0000252 ORPHA:435938 TAS HP:0040280 P ORPHA:orphadata[2023-01-27] +ORPHA:1439 Ring chromosome 12 syndrome HP:0000252 ORPHA:1439 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1437 Ring chromosome 1 syndrome HP:0000252 ORPHA:1437 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome HP:0000252 ORPHA:1422 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:220386 Semilobar holoprosencephaly HP:0000252 ORPHA:220386 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2753 Orofaciodigital syndrome type 4 HP:0000252 ORPHA:2753 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2745 Opitz GBBB syndrome HP:0000252 ORPHA:2745 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome HP:0000252 ORPHA:508533 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1520 Craniofrontonasal dysplasia HP:0000252 ORPHA:1520 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1528 Craniotelencephalic dysplasia HP:0000252 ORPHA:1528 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2850 Alopecia-intellectual disability syndrome HP:0000252 ORPHA:2850 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome NOT HP:0000252 ORPHA:488613 TAS P ORPHA:orphadata[2023-01-27] +ORPHA:280200 Microform holoprosencephaly HP:0000252 ORPHA:280200 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:96097 Distal trisomy 5q HP:0000252 ORPHA:96097 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:291 Congenital varicella syndrome HP:0000252 ORPHA:291 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:290 Congenital rubella syndrome HP:0000252 ORPHA:290 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:293 Congenital herpes simplex virus infection HP:0000252 ORPHA:293 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:363958 17q21.31 microdeletion syndrome HP:0000252 ORPHA:363958 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:244310 RFT1-CDG HP:0000252 ORPHA:244310 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2836 PEHO syndrome HP:0000252 ORPHA:2836 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:280 Wolf-Hirschhorn syndrome HP:0000252 ORPHA:280 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:281 Monosomy 5p HP:0000252 ORPHA:281 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:488632 TBCK-related intellectual disability syndrome HP:0000252 ORPHA:488632 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:233 Duane retraction syndrome HP:0000252 ORPHA:233 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:235 Dubowitz syndrome HP:0000252 ORPHA:235 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:226 Dihydropteridine reductase deficiency HP:0000252 ORPHA:226 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:178303 8q22.1 microdeletion syndrome HP:0000252 ORPHA:178303 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:33364 Trichothiodystrophy HP:0000252 ORPHA:33364 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:243 46,XX gonadal dysgenesis HP:0000252 ORPHA:243 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:357225 Primary non-essential cutis verticis gyrata HP:0000252 ORPHA:357225 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:236 Trisomy 9p HP:0000252 ORPHA:236 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:239 Dyggve-Melchior-Clausen disease HP:0000252 ORPHA:239 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:263487 COG5-CDG HP:0000252 ORPHA:263487 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:79500 DOORS syndrome HP:0000252 ORPHA:79500 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3380 Trisomy 18 HP:0000252 ORPHA:3380 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2052 Fraser syndrome HP:0000252 ORPHA:2052 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2058 Fryns-Smeets-Thiry syndrome HP:0000252 ORPHA:2058 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome HP:0000252 ORPHA:502434 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:36367 Distal monosomy 1q HP:0000252 ORPHA:36367 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:3379 Distal trisomy 17q HP:0000252 ORPHA:3379 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:209905 Brain-lung-thyroid syndrome HP:0000252 ORPHA:209905 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency HP:0000252 ORPHA:352490 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2013 Cleft palate-large ears-small head syndrome HP:0000252 ORPHA:2013 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome HP:0000252 ORPHA:352447 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome HP:0000252 ORPHA:85329 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:261652 Kleefstra syndrome due to a point mutation HP:0000252 ORPHA:261652 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type HP:0000252 ORPHA:85321 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:85323 X-linked intellectual disability, Seemanova type HP:0000252 ORPHA:85323 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:85324 X-linked intellectual disability, Shrimpton type HP:0000252 ORPHA:85324 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:171680 Lissencephaly due to TUBA1A mutation HP:0000252 ORPHA:171680 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:250989 1q21.1 microdeletion syndrome HP:0000252 ORPHA:250989 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:3322 Hoyeraal-Hreidarsson syndrome HP:0000252 ORPHA:3322 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:289504 Combined malonic and methylmalonic acidemia HP:0000252 ORPHA:289504 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency HP:0000252 ORPHA:329228 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome HP:0000252 ORPHA:329224 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3305 Tetraploidy HP:0000252 ORPHA:3305 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:3306 Inverted duplicated chromosome 15 syndrome HP:0000252 ORPHA:3306 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3307 Tetrasomy 18p HP:0000252 ORPHA:3307 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome HP:0000252 ORPHA:3304 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:289522 Microtriplication 11q24.1 HP:0000252 ORPHA:289522 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1590 Distal monosomy 13q HP:0000252 ORPHA:1590 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1598 Monosomy 18p HP:0000252 ORPHA:1598 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1597 Distal monosomy 17q HP:0000252 ORPHA:1597 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1596 Distal monosomy 15q HP:0000252 ORPHA:1596 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1580 Distal monosomy 10p HP:0000252 ORPHA:1580 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:544254 SYNGAP1-related developmental and epileptic encephalopathy HP:0000252 ORPHA:544254 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1587 Monosomy 13q14 HP:0000252 ORPHA:1587 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:401810 Autosomal recessive spastic paraplegia type 64 HP:0000252 ORPHA:401810 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2898 X-linked intellectual disability-plagiocephaly syndrome HP:0000252 ORPHA:2898 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2896 Pitt-Hopkins syndrome HP:0000252 ORPHA:2896 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:363965 Koolen-De Vries syndrome due to a point mutation HP:0000252 ORPHA:363965 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:220295 Xeroderma pigmentosum-Cockayne syndrome complex HP:0000252 ORPHA:220295 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2884 Piebaldism HP:0000252 ORPHA:2884 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:93950 X-linked intellectual disability, Sutherland-Haan type HP:0000252 ORPHA:93950 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:313781 20p13 microdeletion syndrome HP:0000252 ORPHA:313781 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:93946 Hamel cerebro-palato-cardiac syndrome HP:0000252 ORPHA:93946 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:93947 X-linked intellectual disability, Golabi-Ito-Hall type HP:0000252 ORPHA:93947 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:138 CHARGE syndrome HP:0000252 ORPHA:138 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:177 Rhizomelic chondrodysplasia punctata HP:0000252 ORPHA:177 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome HP:0000252 ORPHA:464738 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:93926 Midline interhemispheric variant of holoprosencephaly HP:0000252 ORPHA:93926 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:93924 Lobar holoprosencephaly HP:0000252 ORPHA:93924 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:93925 Alobar holoprosencephaly HP:0000252 ORPHA:93925 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:159 Carnitine-acylcarnitine translocase deficiency HP:0000252 ORPHA:159 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:135 CACH syndrome HP:0000252 ORPHA:135 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:127 Borjeson-Forssman-Lehmann syndrome HP:0000252 ORPHA:127 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:124 Blackfan-Diamond anemia HP:0000252 ORPHA:124 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:96148 Distal monosomy 10q HP:0000252 ORPHA:96148 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion HP:0000252 ORPHA:96147 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:251383 CK syndrome HP:0000252 ORPHA:251383 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:96149 Distal monosomy 12q HP:0000252 ORPHA:96149 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 HP:0000252 ORPHA:98791 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome HP:0000252 ORPHA:541423 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:96123 Monosomy 22 HP:0000252 ORPHA:96123 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:991 PAGOD syndrome HP:0000252 ORPHA:991 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:96170 Emanuel syndrome HP:0000252 ORPHA:96170 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:96176 Ring chromosome 13 syndrome HP:0000252 ORPHA:96176 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome HP:0000252 ORPHA:495875 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:96169 Koolen-De Vries syndrome HP:0000252 ORPHA:96169 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:96168 Monosomy 13q34 HP:0000252 ORPHA:96168 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:544503 RNF13-related severe early-onset epileptic encephalopathy HP:0000252 ORPHA:544503 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:999 Ermine phenotype HP:0000252 ORPHA:999 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:356961 SLC35A2-CDG HP:0000252 ORPHA:356961 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome HP:0000252 ORPHA:364577 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:52503 X-linked creatine transporter deficiency HP:0000252 ORPHA:52503 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome HP:0000252 ORPHA:513456 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:352596 Progressive myoclonic epilepsy with dystonia HP:0000252 ORPHA:352596 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:495818 9q33.3q34.11 microdeletion syndrome HP:0000252 ORPHA:495818 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome HP:0000252 ORPHA:1292 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1299 Branchioskeletogenital syndrome HP:0000252 ORPHA:1299 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1270 Bowen-Conradi syndrome HP:0000252 ORPHA:1270 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:163971 X-linked intellectual disability, Cilliers type HP:0000252 ORPHA:163971 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:163976 X-linked intellectual disability, Van Esch type HP:0000252 ORPHA:163976 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1261 Bonnemann-Meinecke-Reich syndrome HP:0000252 ORPHA:1261 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:163937 X-linked intellectual disability, Najm type HP:0000252 ORPHA:163937 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia HP:0000252 ORPHA:2598 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:261519 Maternal uniparental disomy of chromosome X HP:0000252 ORPHA:261519 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2585 Ataxia-pancytopenia syndrome HP:0000252 ORPHA:2585 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:352577 Bainbridge-Ropers syndrome HP:0000252 ORPHA:352577 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome HP:0000252 ORPHA:2570 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2574 Moynahan syndrome HP:0000252 ORPHA:2574 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome HP:0000252 ORPHA:1236 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1234 Bartsocas-Papas syndrome HP:0000252 ORPHA:1234 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome HP:0000252 ORPHA:83617 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:163979 X-linked intellectual disability-craniofacioskeletal syndrome HP:0000252 ORPHA:163979 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2557 Mietens syndrome HP:0000252 ORPHA:2557 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1229 Congenital intrauterine infection-like syndrome HP:0000252 ORPHA:1229 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2554 Ear-patella-short stature syndrome HP:0000252 ORPHA:2554 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1227 Bangstad syndrome HP:0000252 ORPHA:1227 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2556 Microphthalmia with linear skin defects syndrome HP:0000252 ORPHA:2556 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome HP:0000252 ORPHA:352530 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:199 Cornelia de Lange syndrome HP:0000252 ORPHA:199 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:192 Coffin-Lowry syndrome HP:0000252 ORPHA:192 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:193 Cohen syndrome HP:0000252 ORPHA:193 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome HP:0000252 ORPHA:2533 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder HP:0000252 ORPHA:500180 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:35107 Desmosterolosis HP:0000252 ORPHA:35107 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts HP:0000252 ORPHA:139444 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome HP:0000252 ORPHA:2526 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type HP:0000252 ORPHA:2528 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome HP:0000252 ORPHA:2521 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome HP:0000252 ORPHA:2522 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome HP:0000252 ORPHA:2523 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:139471 Microphthalmia with brain and digit anomalies HP:0000252 ORPHA:139471 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:139474 17q11.2 microduplication syndrome HP:0000252 ORPHA:139474 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome HP:0000252 ORPHA:2513 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2514 Autosomal dominant primary microcephaly HP:0000252 ORPHA:2514 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2515 Microcephaly-cardiomyopathy syndrome HP:0000252 ORPHA:2515 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome HP:0000252 ORPHA:2516 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom HP:0000252 ORPHA:500159 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome HP:0000252 ORPHA:2518 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome HP:0000252 ORPHA:2519 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2510 Micro syndrome HP:0000252 ORPHA:2510 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome HP:0000252 ORPHA:2511 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2512 Autosomal recessive primary microcephaly HP:0000252 ORPHA:2512 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2505 Multiple benign circumferential skin creases on limbs HP:0000252 ORPHA:2505 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome HP:0000252 ORPHA:2508 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2609 Isolated complex I deficiency HP:0000252 ORPHA:2609 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2617 Microcephalic primordial dwarfism, Montreal type HP:0000252 ORPHA:2617 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2604 Familial visceral myopathy HP:0000252 ORPHA:2604 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:254351 Distal 7q11.23 microdeletion syndrome HP:0000252 ORPHA:254351 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:319199 Autosomal recessive spastic paraplegia type 53 HP:0000252 ORPHA:319199 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:300573 Polymicrogyria due to TUBB2B mutation HP:0000252 ORPHA:300573 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome HP:0000252 ORPHA:480907 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:254346 19p13.12 microdeletion syndrome HP:0000252 ORPHA:254346 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:319182 Wiedemann-Steiner syndrome HP:0000252 ORPHA:319182 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria HP:0000252 ORPHA:208441 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:544469 PRUNE1-related neurological syndrome HP:0000252 ORPHA:544469 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:208447 Bilateral generalized polymicrogyria HP:0000252 ORPHA:208447 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:217346 19q13.11 microdeletion syndrome HP:0000252 ORPHA:217346 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:217340 17q21.31 microduplication syndrome HP:0000252 ORPHA:217340 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3098 Rhizomelic syndrome, Urbach type HP:0000252 ORPHA:3098 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:896 Waardenburg syndrome type 3 HP:0000252 ORPHA:896 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:899 Walker-Warburg syndrome HP:0000252 ORPHA:899 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:88618 S-adenosylhomocysteine hydrolase deficiency HP:0000252 ORPHA:88618 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3078 Severe X-linked intellectual disability, Gustavson type HP:0000252 ORPHA:3078 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:3079 Intellectual disability, Buenos-Aires type HP:0000252 ORPHA:3079 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome HP:0000252 ORPHA:391307 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:319171 Distal 17p13.1 microdeletion syndrome HP:0000252 ORPHA:319171 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:434179 Orofaciodigital syndrome type 14 HP:0000252 ORPHA:434179 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome HP:0000252 ORPHA:3068 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:869 Triple A syndrome HP:0000252 ORPHA:869 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3051 Nicolaides-Baraitser syndrome HP:0000252 ORPHA:3051 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:261494 Kleefstra syndrome HP:0000252 ORPHA:261494 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:858 Congenital toxoplasmosis HP:0000252 ORPHA:858 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:893 WAGR syndrome HP:0000252 ORPHA:893 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:891 Familial exudative vitreoretinopathy HP:0000252 ORPHA:891 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type HP:0000252 ORPHA:3047 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:3033 Renal tubular dysgenesis HP:0000252 ORPHA:3033 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome HP:0000252 ORPHA:309854 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:949 Acrocraniofacial dysostosis HP:0000252 ORPHA:949 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:941 D-glyceric aciduria HP:0000252 ORPHA:941 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:3130 Satoyoshi syndrome HP:0000252 ORPHA:3130 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:939 3-hydroxyisobutyric aciduria HP:0000252 ORPHA:939 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3132 Say-Barber-Miller syndrome HP:0000252 ORPHA:3132 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:3121 Ruvalcaba syndrome HP:0000252 ORPHA:3121 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:904 Williams syndrome HP:0000252 ORPHA:904 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:98889 Bilateral perisylvian polymicrogyria HP:0000252 ORPHA:98889 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3103 Roberts syndrome HP:0000252 ORPHA:3103 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:300605 Juvenile amyotrophic lateral sclerosis HP:0000252 ORPHA:300605 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1393 Cerebrocostomandibular syndrome HP:0000252 ORPHA:1393 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1398 Isolated cerebellar agenesis HP:0000252 ORPHA:1398 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:276413 10q22.3q23.3 microdeletion syndrome HP:0000252 ORPHA:276413 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome HP:0000252 ORPHA:1387 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency HP:0000252 ORPHA:927 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:929 Achalasia-microcephaly syndrome HP:0000252 ORPHA:929 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:276422 10q22.3q23.3 microduplication syndrome HP:0000252 ORPHA:276422 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:912 Zellweger syndrome HP:0000252 ORPHA:912 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:910 Xeroderma pigmentosum HP:0000252 ORPHA:910 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome HP:0000252 ORPHA:1352 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1358 Carey-Fineman-Ziter syndrome HP:0000252 ORPHA:1358 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:50812 Zellweger-like syndrome without peroxisomal anomalies HP:0000252 ORPHA:50812 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome HP:0000252 ORPHA:50817 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2671 Neu-Laxova syndrome HP:0000252 ORPHA:2671 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion HP:0000252 ORPHA:352665 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0000252 ORPHA:480864 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome HP:0000252 ORPHA:86822 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:500055 16p13.2 microdeletion syndrome HP:0000252 ORPHA:500055 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1 HP:0000252 ORPHA:1327 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2 HP:0000252 ORPHA:1326 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:86812 POMT1-related limb-girdle muscular dystrophy R11 HP:0000252 ORPHA:86812 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2643 Microcephalic primordial dwarfism, Toriello type HP:0000252 ORPHA:2643 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1314 Symmetrical thalamic calcifications HP:0000252 ORPHA:1314 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III HP:0000252 ORPHA:2636 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II HP:0000252 ORPHA:2637 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1308 C syndrome HP:0000252 ORPHA:1308 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:314389 Xq12-q13.3 duplication syndrome HP:0000252 ORPHA:314389 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1305 Feingold syndrome HP:0000252 ORPHA:1305 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:404448 ADNP syndrome HP:0000252 ORPHA:404448 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:1867 Hereditary bullous dystrophy, macular type HP:0000252 ORPHA:1867 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type HP:0000252 ORPHA:1865 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0000252 ORPHA:404473 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:157954 ANE syndrome HP:0000252 ORPHA:157954 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome HP:0000252 ORPHA:543470 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1832 Lethal osteosclerotic bone dysplasia HP:0000252 ORPHA:1832 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1824 Lowry-Wood syndrome HP:0000252 ORPHA:1824 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:65286 3q29 microdeletion syndrome HP:0000252 ORPHA:65286 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:264450 Trisomy 8p HP:0000252 ORPHA:264450 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:783 Rubinstein-Taybi syndrome HP:0000252 ORPHA:783 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:467166 Tubulinopathy-associated dysgyria HP:0000252 ORPHA:467166 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:565624 Combined oxidative phosphorylation defect type 39 HP:0000252 ORPHA:565624 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:391417 HSD10 disease HP:0000252 ORPHA:391417 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:391428 HSD10 disease, infantile type HP:0000252 ORPHA:391428 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:589618 Dystonia 28 HP:0000252 ORPHA:589618 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome HP:0000252 ORPHA:391408 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:765 Pyruvate dehydrogenase deficiency HP:0000252 ORPHA:765 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:261349 2p15p16.1 microdeletion syndrome HP:0000252 ORPHA:261349 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:46059 Lathosterolosis HP:0000252 ORPHA:46059 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1083 Microlissencephaly HP:0000252 ORPHA:1083 TAS HP:0040280 P ORPHA:orphadata[2023-01-27] +ORPHA:261337 Distal 22q11.2 microduplication syndrome HP:0000252 ORPHA:261337 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:261330 Distal 22q11.2 microdeletion syndrome HP:0000252 ORPHA:261330 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:816 Sjögren-Larsson syndrome HP:0000252 ORPHA:816 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:819 Smith-Magenis syndrome HP:0000252 ORPHA:819 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:818 Smith-Lemli-Opitz syndrome HP:0000252 ORPHA:818 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:261323 21q22.11q22.12 microdeletion syndrome HP:0000252 ORPHA:261323 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2394 Pyruvate dehydrogenase E3 deficiency HP:0000252 ORPHA:2394 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome HP:0000252 ORPHA:2399 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0000252 ORPHA:847 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1052 Mosaic variegated aneuploidy syndrome HP:0000252 ORPHA:1052 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:833 Encephalopathy due to sulfite oxidase deficiency HP:0000252 ORPHA:833 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:261304 Paternal 20q13.2q13.3 microdeletion syndrome HP:0000252 ORPHA:261304 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome HP:0000252 ORPHA:1046 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:64754 Nevus comedonicus syndrome HP:0000252 ORPHA:64754 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome HP:0000252 ORPHA:2375 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita NOT HP:0000252 ORPHA:319332 TAS P ORPHA:orphadata[2023-01-27] +ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 HP:0000252 ORPHA:96334 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:808 Seckel syndrome HP:0000252 ORPHA:808 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:800 Schwartz-Jampel syndrome HP:0000252 ORPHA:800 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2346 Angioosteohypertrophic syndrome HP:0000252 ORPHA:2346 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome HP:0000252 ORPHA:1005 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1001 2q37 microdeletion syndrome HP:0000252 ORPHA:1001 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2332 KBG syndrome HP:0000252 ORPHA:2332 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:284180 Xp22.13p22.2 duplication syndrome HP:0000252 ORPHA:284180 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:268943 Unilateral polymicrogyria HP:0000252 ORPHA:268943 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome HP:0000252 ORPHA:2339 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2323 Sanjad-Sakati syndrome HP:0000252 ORPHA:2323 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2322 Kabuki syndrome HP:0000252 ORPHA:2322 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2321 Jung syndrome HP:0000252 ORPHA:2321 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:169079 Cernunnos-XLF deficiency HP:0000252 ORPHA:169079 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2311 Autosomal recessive spondylocostal dysostosis HP:0000252 ORPHA:2311 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2319 Juberg-Hayward syndrome HP:0000252 ORPHA:2319 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2316 Johnson neuroectodermal syndrome HP:0000252 ORPHA:2316 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2315 Johanson-Blizzard syndrome HP:0000252 ORPHA:2315 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2306 Isotretinoin-like syndrome HP:0000252 ORPHA:2306 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:293939 Distal Xq28 microduplication syndrome HP:0000252 ORPHA:293939 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency HP:0000252 ORPHA:70594 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome HP:0000252 ORPHA:466688 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction HP:0000252 ORPHA:506353 TAS HP:0040280 P ORPHA:orphadata[2023-01-27] +ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation HP:0000252 ORPHA:453504 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome HP:0000252 ORPHA:293967 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1980 Bilateral striopallidodentate calcinosis HP:0000252 ORPHA:1980 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:90308 Klippel-Trénaunay syndrome HP:0000252 ORPHA:90308 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:251071 8p23.1 microdeletion syndrome HP:0000252 ORPHA:251071 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:442835 Non-specific early-onset epileptic encephalopathy HP:0000252 ORPHA:442835 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:251066 8p11.2 deletion syndrome HP:0000252 ORPHA:251066 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome HP:0000252 ORPHA:1964 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:251056 6q25 microdeletion syndrome HP:0000252 ORPHA:251056 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:699 Pearson syndrome HP:0000252 ORPHA:699 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:90348 Autosomal dominant cutis laxa HP:0000252 ORPHA:90348 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:90349 Autosomal recessive cutis laxa type 1 NOT HP:0000252 ORPHA:90349 TAS P ORPHA:orphadata[2023-01-27] +ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome HP:0000252 ORPHA:1948 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1942 Myoclonic-astatic epilepsy HP:0000252 ORPHA:1942 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:251038 3q29 microduplication syndrome HP:0000252 ORPHA:251038 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1934 Early infantile epileptic encephalopathy HP:0000252 ORPHA:1934 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria HP:0000252 ORPHA:1933 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1919 Phenobarbital embryopathy HP:0000252 ORPHA:1919 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1917 Fetal methylmercury syndrome HP:0000252 ORPHA:1917 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:251028 SATB2-associated syndrome due to a chromosomal rearrangement HP:0000252 ORPHA:251028 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:353298 Roifman syndrome HP:0000252 ORPHA:353298 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1926 Diabetic embryopathy HP:0000252 ORPHA:1926 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1920 Toluene embryopathy HP:0000252 ORPHA:1920 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1908 Aminopterin/methotrexate embryofetopathy HP:0000252 ORPHA:1908 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:66631 CEDNIK syndrome HP:0000252 ORPHA:66631 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:261290 Trisomy 17p HP:0000252 ORPHA:261290 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:251019 2q32q33 microdeletion syndrome HP:0000252 ORPHA:251019 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:251014 2q31.1 microdeletion syndrome HP:0000252 ORPHA:251014 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1915 Fetal alcohol syndrome HP:0000252 ORPHA:1915 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:66629 Goldberg-Shprintzen megacolon syndrome HP:0000252 ORPHA:66629 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1913 Fetal trimethadione syndrome HP:0000252 ORPHA:1913 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1912 Fetal hydantoin syndrome HP:0000252 ORPHA:1912 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:398189 Focal facial dermal dysplasia type IV HP:0000252 ORPHA:398189 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:28378 Tyrosinemia type 2 HP:0000252 ORPHA:28378 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:261279 17q23.1q23.2 microdeletion syndrome HP:0000252 ORPHA:261279 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin HP:0000252 ORPHA:168577 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:621 Hereditary methemoglobinemia HP:0000252 ORPHA:621 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:398156 Oculoauriculofrontonasal syndrome HP:0000252 ORPHA:398156 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation HP:0000252 ORPHA:320385 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:647 Nijmegen breakage syndrome HP:0000252 ORPHA:647 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:649 Norrie disease HP:0000252 ORPHA:649 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome HP:0000252 ORPHA:77300 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:261236 16p13.11 microdeletion syndrome HP:0000252 ORPHA:261236 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1094 Anonychia-microcephaly syndrome HP:0000252 ORPHA:1094 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:435628 Keppen-Lubinsky syndrome HP:0000252 ORPHA:435628 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:709 Peters plus syndrome HP:0000252 ORPHA:709 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:702 Pelizaeus-Merzbacher disease HP:0000252 ORPHA:702 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0000252 ORPHA:1194 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:79096 Pyridoxal phosphate-responsive seizures HP:0000252 ORPHA:79096 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:261204 16p11.2p12.2 microduplication syndrome HP:0000252 ORPHA:261204 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:726 Alpers-Huttenlocher syndrome HP:0000252 ORPHA:726 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:168486 Congenital neuronal ceroid lipofuscinosis HP:0000252 ORPHA:168486 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome HP:0000252 ORPHA:2491 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris HP:0000252 ORPHA:1166 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2479 Megalocornea-intellectual disability syndrome HP:0000252 ORPHA:2479 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1131 X-linked mandibulofacial dysostosis HP:0000252 ORPHA:1131 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2462 Shprintzen-Goldberg syndrome HP:0000252 ORPHA:2462 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2461 Marden-Walker syndrome HP:0000252 ORPHA:2461 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:530983 Lamb-Shaffer syndrome HP:0000252 ORPHA:530983 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:67046 3-methylglutaconic aciduria type 1 HP:0000252 ORPHA:67046 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:363528 Intellectual disability-strabismus syndrome HP:0000252 ORPHA:363528 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:67048 3-methylglutaconic aciduria type 4 HP:0000252 ORPHA:67048 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome HP:0000252 ORPHA:1113 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z HP:0000252 ORPHA:466768 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome HP:0000252 ORPHA:1110 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:77299 Microphthalmia-brain atrophy syndrome HP:0000252 ORPHA:77299 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome HP:0000252 ORPHA:2435 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome HP:0000252 ORPHA:453499 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2409 Lowry-MacLean syndrome HP:0000252 ORPHA:2409 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:420561 Temple-Baraitser syndrome HP:0000252 ORPHA:420561 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:280763 Severe intellectual disability and progressive spastic paraplegia HP:0000252 ORPHA:280763 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome HP:0000252 ORPHA:93324 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy HP:0000252 ORPHA:466934 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2968 Leukocyte adhesion deficiency HP:0000252 ORPHA:2968 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:466926 Seizures-scoliosis-macrocephaly syndrome HP:0000252 ORPHA:466926 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1636 Distal monosomy 7q36 HP:0000252 ORPHA:1636 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1620 Distal monosomy 3p HP:0000252 ORPHA:1620 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome HP:0000252 ORPHA:457193 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2959 Progeria-short stature-pigmented nevi syndrome HP:0000252 ORPHA:2959 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:314621 Duplication of the pituitary gland HP:0000252 ORPHA:314621 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1606 1p36 deletion syndrome HP:0000252 ORPHA:1606 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation HP:0000252 ORPHA:464311 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1600 Monosomy 18q HP:0000252 ORPHA:1600 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:585 Multiple sulfatase deficiency HP:0000252 ORPHA:585 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2919 Orofaciodigital syndrome type 5 HP:0000252 ORPHA:2919 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2920 Oliver syndrome HP:0000252 ORPHA:2920 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:464306 DYRK1A-related intellectual disability syndrome HP:0000252 ORPHA:464306 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:314679 Cerebrofacioarticular syndrome HP:0000252 ORPHA:314679 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:578 Mucolipidosis type IV HP:0000252 ORPHA:578 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2911 Poland syndrome HP:0000252 ORPHA:2911 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:261190 15q14 microdeletion syndrome HP:0000252 ORPHA:261190 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:420741 RIDDLE syndrome HP:0000252 ORPHA:420741 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome HP:0000252 ORPHA:508498 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion HP:0000252 ORPHA:268261 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:261183 15q11.2 microdeletion syndrome HP:0000252 ORPHA:261183 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract HP:0000252 ORPHA:500545 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:567 22q11.2 deletion syndrome HP:0000252 ORPHA:567 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:568 Microphthalmia, Lenz type HP:0000252 ORPHA:568 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:565 Menkes disease HP:0000252 ORPHA:565 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:564 Meckel syndrome HP:0000252 ORPHA:564 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome HP:0000252 ORPHA:521445 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:42775 PHACE syndrome HP:0000252 ORPHA:42775 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:559 Marinesco-Sjögren syndrome HP:0000252 ORPHA:559 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:391641 Feingold syndrome type 1 HP:0000252 ORPHA:391641 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion HP:0000252 ORPHA:261144 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2090 GMS syndrome HP:0000252 ORPHA:2090 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:508 Leprechaunism HP:0000252 ORPHA:508 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:502 Trichorhinophalangeal syndrome type 2 HP:0000252 ORPHA:502 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2083 Prominent glabella-microcephaly-hypogenitalism syndrome HP:0000252 ORPHA:2083 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:521426 PLAA-associated neurodevelopmental disorder HP:0000252 ORPHA:521426 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:391646 Feingold syndrome type 2 HP:0000252 ORPHA:391646 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:448237 Zika virus disease HP:0000252 ORPHA:448237 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:2075 Genitopalatocardiac syndrome HP:0000252 ORPHA:2075 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:261112 Monosomy 9p HP:0000252 ORPHA:261112 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:284339 Pontocerebellar hypoplasia type 7 HP:0000252 ORPHA:284339 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2065 Galloway-Mowat syndrome HP:0000252 ORPHA:2065 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:468678 White-Sutton syndrome HP:0000252 ORPHA:468678 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome HP:0000252 ORPHA:2163 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2162 Holoprosencephaly HP:0000252 ORPHA:2162 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2169 Methylcobalamin deficiency type cblE HP:0000252 ORPHA:2169 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome HP:0000252 ORPHA:2166 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome HP:0000252 ORPHA:2165 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2152 Mowat-Wilson syndrome HP:0000252 ORPHA:2152 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome HP:0000252 ORPHA:464282 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome HP:0000252 ORPHA:464288 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:238769 1q44 microdeletion syndrome HP:0000252 ORPHA:238769 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:86309 DPAGT1-CDG HP:0000252 ORPHA:86309 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2135 Hennekam-Beemer syndrome HP:0000252 ORPHA:2135 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:181393 Growth hormone insensitivity syndrome HP:0000252 ORPHA:181393 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:3465 Worster-Drought syndrome HP:0000252 ORPHA:3465 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3469 XK aprosencephaly syndrome HP:0000252 ORPHA:3469 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:447788 Cerebral visual impairment HP:0000252 ORPHA:447788 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3448 Weaver-Williams syndrome HP:0000252 ORPHA:3448 TAS HP:0040280 P ORPHA:orphadata[2023-01-27] +ORPHA:2115 Harrod syndrome HP:0000252 ORPHA:2115 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0000252 ORPHA:447760 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome HP:0000252 ORPHA:3433 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2108 Hallermann-Streiff syndrome HP:0000252 ORPHA:2108 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:3434 MMEP syndrome HP:0000252 ORPHA:3434 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2107 Hall-Riggs syndrome HP:0000252 ORPHA:2107 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:363659 20q11.2 microduplication syndrome HP:0000252 ORPHA:363659 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome HP:0000252 ORPHA:79124 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:1695 Non-distal trisomy 10q HP:0000252 ORPHA:1695 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:363611 CTCF-related neurodevelopmental disorder HP:0000252 ORPHA:363611 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome HP:0000252 ORPHA:487796 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency HP:0000252 ORPHA:468631 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency HP:0000252 ORPHA:1675 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome HP:0000252 ORPHA:468620 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1665 Sporadic fetal brain disruption sequence HP:0000252 ORPHA:1665 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency HP:0000252 ORPHA:431361 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2990 Autosomal recessive multiple pterygium syndrome HP:0000252 ORPHA:2990 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome HP:0000252 ORPHA:2994 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1667 Wolcott-Rallison syndrome HP:0000252 ORPHA:1667 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome HP:0000252 ORPHA:2995 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19 HP:0000252 ORPHA:363623 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2980 Acrootoocular syndrome HP:0000252 ORPHA:2980 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2985 Pseudoprogeria syndrome HP:0000252 ORPHA:2985 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:397946 Autosomal spastic paraplegia type 58 HP:0000252 ORPHA:397946 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy HP:0000252 ORPHA:438114 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome HP:0000252 ORPHA:485350 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1738 Trisomy 4p HP:0000252 ORPHA:1738 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1727 22q11.2 duplication syndrome HP:0000252 ORPHA:1727 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome HP:0000252 ORPHA:459070 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:79326 ALG2-CDG HP:0000252 ORPHA:79326 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome HP:0000252 ORPHA:505237 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1707 Distal trisomy 15q HP:0000252 ORPHA:1707 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1715 Trisomy 18p HP:0000252 ORPHA:1715 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1713 17p11.2 microduplication syndrome HP:0000252 ORPHA:1713 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:79321 ALG3-CDG HP:0000252 ORPHA:79321 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1702 Non-distal trisomy 13q HP:0000252 ORPHA:1702 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome HP:0000252 ORPHA:438134 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:99776 Mosaic trisomy 9 HP:0000252 ORPHA:99776 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome HP:0000252 ORPHA:457260 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:452 X-linked lissencephaly with abnormal genitalia HP:0000252 ORPHA:452 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:94065 15q24 microdeletion syndrome HP:0000252 ORPHA:94065 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:94063 12q14 microdeletion syndrome HP:0000252 ORPHA:94063 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:457240 X-linked intellectual disability-short stature-overweight syndrome HP:0000252 ORPHA:457240 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:99742 Amish lethal microcephaly HP:0000252 ORPHA:99742 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:280071 ALG11-CDG HP:0000252 ORPHA:280071 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type HP:0000252 ORPHA:85172 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome HP:0000252 ORPHA:85165 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 HP:0000252 ORPHA:369840 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:228402 2q23.1 microdeletion syndrome HP:0000252 ORPHA:228402 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome HP:0000252 ORPHA:2282 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:228415 5q35 microduplication syndrome HP:0000252 ORPHA:228415 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:370921 STT3A-CDG HP:0000252 ORPHA:370921 TAS HP:0040280 P ORPHA:orphadata[2023-01-27] +ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome HP:0000252 ORPHA:2273 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome HP:0000252 ORPHA:2271 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome HP:0000252 ORPHA:369939 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome HP:0000252 ORPHA:2261 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2257 Primary pulmonary hypoplasia HP:0000252 ORPHA:2257 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome HP:0000252 ORPHA:2232 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:525731 Pediatric-onset Graves disease HP:0000252 ORPHA:525731 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:319675 Microcephalic primordial dwarfism, Dauber type HP:0000252 ORPHA:319675 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2220 Hypertrichosis cubiti HP:0000252 ORPHA:2220 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome HP:0000252 ORPHA:2213 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:370079 Proximal 16p11.2 microduplication syndrome HP:0000252 ORPHA:370079 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:255182 Pyruvate dehydrogenase E3-binding protein deficiency HP:0000252 ORPHA:255182 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:2216 Maternal hyperthermia-induced birth defects HP:0000252 ORPHA:2216 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2204 Dysplastic cortical hyperostosis HP:0000252 ORPHA:2204 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:2203 Hyperlysinemia HP:0000252 ORPHA:2203 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:79254 Classic phenylketonuria HP:0000252 ORPHA:79254 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:2209 Maternal phenylketonuria HP:0000252 ORPHA:2209 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:79243 Pyruvate dehydrogenase E1-alpha deficiency HP:0000252 ORPHA:79243 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:79244 Pyruvate dehydrogenase E2 deficiency HP:0000252 ORPHA:79244 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:79237 Galactokinase deficiency HP:0000252 ORPHA:79237 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] +ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome HP:0000252 ORPHA:371364 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:1797 Autosomal dominant spondylocostal dysostosis HP:0000252 ORPHA:1797 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:1798 Dysostosis, Stanescu type HP:0000252 ORPHA:1798 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:1786 Acrofacial dysostosis, Catania type HP:0000252 ORPHA:1786 TAS HP:0040281 P ORPHA:orphadata[2023-01-27] +ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0000252 ORPHA:79282 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome HP:0000252 ORPHA:370010 TAS HP:0040283 P ORPHA:orphadata[2023-01-27] +ORPHA:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome HP:0000252 ORPHA:477673 TAS HP:0040282 P ORPHA:orphadata[2023-01-27] +ORPHA:26792 Short chain acyl-CoA dehydrogenase deficiency HP:0000252 ORPHA:26792 TAS HP:0040284 P ORPHA:orphadata[2023-01-27] diff --git a/tests/input/test_sample.hpoa.tsv b/tests/input/test_sample.hpoa.tsv new file mode 100644 index 000000000..4674d60c2 --- /dev/null +++ b/tests/input/test_sample.hpoa.tsv @@ -0,0 +1,100 @@ +OMIM:620038 Neurodevelopmental disorder with microcephaly, hypotonia, and absent language HP:0000252 PMID:32129449 PCS 2/2 P HPO:probinson[2022-10-03] +OMIM:608716 Microcephaly 5, primary, autosomal recessive HP:0000252 PMID:16673149 PCS 6/6 P HPO:probinson[2009-02-17];HPO:probinson[2022-06-23] +OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome HP:0000252 PMID:27346735 PCS 1/1 P HPO:probinson[2021-10-21] +OMIM:251250 Microcephaly with cervical spine fusion anomalies HP:0000252 OMIM:251250 IEA P HPO:iea[2009-02-17] +OMIM:612626 Chromosome 15q26-qter deletion syndrome HP:0000252 OMIM:612626 IEA P HPO:skoehler[2010-06-19] +OMIM:309580 Intellectual disability-hypotonic facies syndrome, X-linked HP:0000252 OMIM:309580 IEA P HPO:iea[2009-02-17] +OMIM:614558 Epileptic encephalopathy, early infantile, 13 HP:0000252 PMID:25239001 PCS HP:0011463 1/1 P HPO:skoehler[2015-01-04];HPO:probinson[2022-06-04] +OMIM:616140 Leukodystrophy, hypomyelinating, 9 HP:0000252 OMIM:616140 TAS P HPO:skoehler[2015-01-04] +OMIM:617397 Pseudo-Torch syndrome 2 HP:0000252 PMID:27325888 PCS 1/5 P HPO:skoehler[2017-07-13];HPO:probinson[2022-03-23] +OMIM:309500 Renpenning syndrome HP:0000252 PMID:15782410 PCS 38/44 P HPO:iea[2009-02-17];HPO:probinson[2020-08-09] +OMIM:180870 Ruvalcaba syndrome HP:0000252 OMIM:180870 IEA P HPO:iea[2009-02-17] +OMIM:609460 Goldberg-Shprintzen syndrome HP:0000252 OMIM:609460 IEA P HPO:iea[2009-02-17] +OMIM:615599 Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity HP:0000252 PMID:21937992 PCS 2/2 P HPO:skoehler[2014-02-06];HPO:probinson[2022-03-15] +OMIM:609654 Short stature and facioauriculothoracic malformations HP:0000252 OMIM:609654 IEA P HPO:iea[2009-02-17] +OMIM:608885 Stomatin-Deficient cryohydrocytosis with neurologic defects HP:0000252 OMIM:608885 TAS P HPO:skoehler[2015-12-30] +OMIM:620027 Neurodevelopmental disorder with microcephaly, short stature, and speech delay HP:0000252 PMID:35298461 PCS 7/8 P HPO:probinson[2022-10-05] +OMIM:600001 Pancreatic agenesis and congenital heart defects HP:0000252 OMIM:600001 TAS HP:0040283 P HPO:skoehler[2012-11-18] +OMIM:619304 Pontocerebellar hypoplasia, type 1F HP:0000252 PMID:33463720 PCS 1/1 P HPO:probinson[2021-07-06] +OMIM:619814 Developmental and epileptic encephalopathy 101 HP:0000252 PMID:27164704 PCS 1/3 P HPO:probinson[2022-05-14] +OMIM:617938 Developmental and epileptic encephalopathy 62 HP:0000252 PMID:29466837 PCS 1/6 P HPO:skoehler[2019-04-18];HPO:probinson[2021-02-18] +OMIM:608670 Robin sequence, distinctive facial appearance, and brachydactyly HP:0000252 PMID:15057987 PCS 1/2 P HP:probinson[2022-02-09] +OMIM:308350 Developmental and epileptic encephalopathy 1 HP:0000252 PMID:21108397;PMID:11889467;OMIM:308350 PCS 13/13 P HPO:iea[2009-02-17];HPO:probinson[2022-06-22];HPO:probinson[2021-06-23] +OMIM:615284 Charcot-Marie-Tooth disease, type 4B3 HP:0000252 OMIM:615284 TAS P HPO:skoehler[2015-02-22] +OMIM:312170 Pyruvate dehydrogenase e1-alpha deficiency HP:0000252 OMIM:312170 IEA P HPO:iea[2009-02-17] +OMIM:164280 Feingold syndrome 1 HP:0000252 OMIM:164280 IEA P HPO:iea[2009-02-17] +OMIM:611134 Meckel syndrome, type 4 HP:0000252 OMIM:611134 TAS HP:0040283 P HPO:skoehler[2015-04-26] +OMIM:617827 Immunodeficiency 55 HP:0000252 PMID:28414293 PCS 2/5 P HPO:skoehler[2019-04-18];HPO:probinson[2022-09-25] +OMIM:615673 Myopathy with extrapyramidal signs HP:0000252 PMID:24336167 PCS 5/15 P HPO:skoehler[2017-07-13];HPO:probinson[2021-10-18] +OMIM:618890 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity HP:0000252 PMID:29090338 PCS 1/1 P HPO:probinson[2020-08-13];HPO:probinson[2020-08-13] +OMIM:619243 Global developmental delay with speech and behavioral abnormalities HP:0000252 PMID:32152250 PCS 3/17 P HPO:probinson[2021-05-11] +OMIM:530000 Kearns-Sayre syndrome HP:0000252 OMIM:530000 IEA P HPO:iea[2009-02-17] +OMIM:614541 Chromosome 16q22 deletion syndrome HP:0000252 PMID:8230159 IEA 3/6 P HPO:probinson[2021-06-26] +OMIM:223540 Dwarfism, mental retardation, and eye abnormality HP:0000252 OMIM:223540 TAS P HPO:skoehler[2015-07-26] +OMIM:617061 Mental retardation, autosomal dominant 44 HP:0000252 PMID:26721934;PMID:32109419 PCS 13/19 P HPO:skoehler[2017-07-13];HPO:probinson[2022-03-28];HPO:probinson[2022-04-02] +OMIM:615272 Fanconi anemia, complementation group Q HP:0000252 PMID:23623386 PCS 1/2 P HPO:skoehler[2013-08-18];HPO:probinson[2022-03-15] +OMIM:617101 Intellectual developmental disorder with persistence of fetal hemoglobin HP:0000252 OMIM:617101 TAS P HPO:skoehler[2017-07-13] +OMIM:620023 Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures HP:0000252 PMID:35202461 PCS 6/6 P HPO:probinson[2022-10-07] +OMIM:612947 Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance HP:0000252 OMIM:612947 IEA P HPO:skoehler[2010-06-19] +OMIM:613680 Beaulieu-Boycott-Innes syndrome HP:0000252 PMID:23621916 PCS 4/4 P HPO:skoehler[2012-10-17];HPO:probinson[2022-09-08] +OMIM:603467 Fanconi anemia, complementation group F HP:0000252 PMID:31288759;PMID:27714961 PCS 2/4 P HPO:probinson[2021-07-05];HPO:probinson[2020-07-22];HPO:probinson[2020-07-22] +OMIM:619148 Chromosome 13q33-q34 deletion syndrome HP:0000252 PMID:19363806 PCS 8/11 P HPO:probinson[2021-03-13] +OMIM:608540 Congenital disorder of glycosylation, type Ik HP:0000252 OMIM:608540 IEA P HPO:iea[2009-02-17] +OMIM:613489 Congenital disorder of glycosylation, type IIj HP:0000252 OMIM:613489 TAS HP:0040283 P HPO:skoehler[2012-11-18] +OMIM:601349 Microphthalmia, syndromic 8 HP:0000252 OMIM:601349 IEA P HPO:skoehler[2010-06-20] +OMIM:618798 Beck-Fahrner syndrome HP:0000252 PMID:31928709 PCS 1/11 P HPO:probinson[2020-05-18] +OMIM:618889 Liberfarb syndrome HP:0000252 PMID:31263216 PCS P HPO:probinson[2020-07-24] +OMIM:617303 Mucopolysaccharidosis-Plus syndrome HP:0000252 PMID:27547915 PCS 1/2 P HPO:probinson[2021-02-19] +OMIM:609625 Chromosome 10Q26 deletion syndrome HP:0000252 OMIM:609625 IEA P HPO:iea[2009-02-17] +OMIM:614485 Trigonocephaly 2 HP:0000252 OMIM:614485 TAS HP:0040283 P HPO:skoehler[2012-11-18] +OMIM:609056 Salt and pepper developmental regression syndrome HP:0000252 OMIM:609056 TAS HP:0040283 P HPO:skoehler[2014-08-24] +OMIM:619218 ENDOVE syndrome, limb-brain type HP:0000252 PMID:33568816 PCS 1/1 P HPO:probinson[2021-05-18] +OMIM:619151 AMED syndrome, digenic HP:0000252 PMID:33355142 PCS 6/7 P HPO:probinson[2021-03-05] +OMIM:271110 Spinal muscular atrophy with microcephaly and mental subnormality HP:0000252 OMIM:271110 IEA P HPO:iea[2009-02-17] +OMIM:616651 Roifman syndrome HP:0000252 PMID:26522830 PCS 5/6 P HPO:skoehler[2015-12-30] +OMIM:244450 Kaufman oculocerebrofacial syndrome HP:0000252 PMID:23200864 PCS P HPO:iea[2009-02-17] +OMIM:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked HP:0000252 PMID:33523931 PCS 5/10 P HPO:probinson[2021-05-02];HPO:probinson[2021-05-02] +OMIM:614886 Peroxisome biogenesis disorder 12A (Zellweger) HP:0000252 OMIM:614886 TAS P HPO:skoehler[2017-07-13] +OMIM:619268 Alzahrani-Kuwahara syndrome HP:0000252 PMID:33242396 PCS 7/9 P HPO:probinson[2021-05-31] +OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 HP:0000252 OMIM:615419 TAS P HPO:skoehler[2013-09-30] +OMIM:613612 Congenital disorder of glycosylation, type IIi HP:0000252 PMID:23228021 PCS 6/7 P HPO:probinson[2020-08-11] +OMIM:618470 Intellectual developmental disorder with severe speech and ambulation defects HP:0000252 PMID:31031012 PCS 2/10 P HPO:skoehler[2019-09-07];HPO:probinson[2022-11-09] +OMIM:614231 Microcephaly, epilepsy, and diabetes syndrome HP:0000252 OMIM:614231 TAS P HPO:skoehler[2013-01-22] +OMIM:606232 Phelan-Mcdermid syndrome HP:0000252 PMID:20301377 PCS HP:0040284 P HPO:iea[2012-04-24];HPO:probinson[2019-11-28] +OMIM:156200 Mental retardation, autosomal dominant 1 HP:0000252 OMIM:156200 TAS P HPO:skoehler[2012-11-18] +OMIM:607326 Smith-Mccort dysplasia 1 HP:0000252 OMIM:607326 IEA P HPO:iea[2009-02-17] +OMIM:615352 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 HP:0000252 PMID:23768512 PCS 2/3 P HPO:skoehler[2013-10-06];HPO:probinson[2022-12-13] +OMIM:617243 Fanconi anemia, complementation group V HP:0000252 PMID:27500492 PCS 1/1 P HPO:skoehler[2017-07-13];HPO:probinson[2022-09-27] +OMIM:614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant HP:0000252 PMID:25864721 PCS 2/4 P HPO:skoehler[2019-04-18];HPO:probinson[2023-01-17] +OMIM:617404 Muscular dystrophy, congenital, with cataracts and intellectual disability HP:0000252 OMIM:617404 TAS 2/12 P HPO:skoehler[2017-07-13];HPO:probinson[2022-11-27] +OMIM:619321 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies HP:0000252 PMID:29851065 PCS 4/4 P HPO:probinson[2021-07-03] +OMIM:224230 Dyskeratosis congenita, autosomal recessive 1 HP:0000252 OMIM:224230 IEA P HPO:iea[2009-02-17] +OMIM:614462 Hyperglycinemia, lactic acidosis, and seizures HP:0000252 OMIM:614462 TAS P HPO:skoehler[2012-10-17] +OMIM:600901 Fanconi anemia, complementation group E HP:0000252 OMIM:600901 IEA P HPO:iea[2009-02-17] +OMIM:617276 Developmental and epileptic encephalopathy 48 HP:0000252 PMID:27889060 PCS 9/12 P HPO:skoehler[2017-07-13];HPO:probinson[2021-02-13] +OMIM:614813 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis HP:0000252 OMIM:614813 TAS HP:0003581 P HPO:skoehler[2012-11-16];HPO:probinson[2021-10-20] +OMIM:164200 Oculodentodigital dysplasia HP:0000252 OMIM:164200 IEA P HPO:probinson[2009-02-17] +OMIM:117650 Cerebrocostomandibular syndrome HP:0000252 OMIM:117650 TAS P HPO:probinson[2009-02-17] +OMIM:245349 Pyruvate dehydrogenase e3-binding protein deficiency HP:0000252 OMIM:245349 IEA P HPO:iea[2009-02-17] +OMIM:619087 Noonan syndrome 13 HP:0000252 PMID:32721402 PCS 1/7 P HPO:probinson[2020-12-21] +OMIM:617988 Jaberi-Elahi syndrome HP:0000252 PMID:29449720 PCS 3/3 P HPO:skoehler[2019-04-18];HPO:probinson[2022-09-07] +OMIM:613026 Chromosome 19q13.11 deletion syndrome, distal HP:0000252 PMID:19126570 PCS 3/3 P HPO:skoehler[2010-06-19];HPO:probinson[2021-07-06] +OMIM:618736 Structural brain anomalies with impaired intellectual development and craniosynostosis HP:0000252 PMID:26340333 PCS 3/9 P HPO:probinson[2020-05-20] +OMIM:612952 Aicardi-Goutieres syndrome 5 HP:0000252 OMIM:612952 TAS HP:0040283 P HPO:skoehler[2017-07-13] +OMIM:616603 Cutis laxa, autosomal dominant 3 HP:0000252 OMIM:616603 TAS P HPO:skoehler[2015-11-15] +OMIM:272440 Filippi syndrome HP:0000252 OMIM:272440 IEA P HPO:iea[2009-02-17] +OMIM:300884 Epileptic encephalopathy, early infantile, 36 HP:0000252 PMID:22492991 PCS 1/1 P HPO:skoehler[2012-11-25];HPO:probinson[2022-05-30] +OMIM:252160 Molybdenum cofactor deficiency, complementation group B HP:0000252 PMID:16021469 PCS 1/1 P HPO:skoehler[2014-01-28];HPO:probinson[2022-11-08] +OMIM:619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities HP:0000252 PMID:33824500 PCS 8/17 P HPO:probinson[2021-10-16] +OMIM:615851 Pontocerebellar hypoplasia, type 2E HP:0000252 PMID:24577744 PCS P HPO:skoehler[2014-06-24];HPO:probinson[2020-12-13] +OMIM:613155 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 HP:0000252 PMID:16575835 PCS 5/5 P HPO:skoehler[2012-10-17];HPO:probinson[2022-11-04] +OMIM:112370 Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay HP:0000252 OMIM:112370 IEA P HPO:iea[2009-02-17] +OMIM:618482 Generalized epilepsy with febrile seizures plus, type 10 HP:0000252 PMID:30351409 PCS 2/19 P HPO:probinson[2019-07-06] +OMIM:309800 Microphthalmia, syndromic 1 HP:0000252 OMIM:309800 IEA P HPO:iea[2009-02-17] +OMIM:613451 Frontonasal dysplasia 2 HP:0000252 PMID:19692347 PCS 1/2 P HPO:skoehler[2015-07-26];HPO:probinson[2022-05-08] +OMIM:304100 Corpus callosum, partial agenesis of, X-linked HP:0000252 OMIM:304100 IEA P HPO:iea[2009-02-17] +OMIM:618468 Epileptic encephalopathy, early infantile, 76 HP:0000252 PMID:31031012 PCS 6/11 P HPO:probinson[2020-05-15];HPO:probinson[2020-05-15] +OMIM:618325 Lissencephaly 9 with complex brainstem malformation HP:0000252 PMID:30471716 PCS 2/8 P HPO:skoehler[2019-04-18];HPO:probinson[2022-11-10] +OMIM:615596 Congenital disorder of glycosylation, type Iw HP:0000252 PMID:23842455 PCS 2/2 P HPO:skoehler[2014-02-06];HPO:probinson[2022-03-27] +OMIM:609425 Chromosome 3q29 deletion syndrome HP:0000252 PMID:15918153 PCS P HPO:iea[2010-09-13] +OMIM:271109 Spinal muscular atrophy with mental retardation HP:0000252 OMIM:271109 IEA P HPO:iea[2009-02-17] diff --git a/tests/integration/test_evaluation/test_eval_hpoa.py b/tests/integration/test_evaluation/test_eval_hpoa.py index afa5eb1f9..bd5574eb6 100644 --- a/tests/integration/test_evaluation/test_eval_hpoa.py +++ b/tests/integration/test_evaluation/test_eval_hpoa.py @@ -1,4 +1,4 @@ -"""Core tests.""" +"""Core tests for Human Phenotype Ontology Annotations (HPOA) evaluation.""" import unittest import yaml @@ -13,7 +13,7 @@ class Testhpoa(unittest.TestCase): - """Test GO evaluation.""" + """Test HPOA evaluation.""" def setUp(self) -> None: """Set up all engines in advance.""" @@ -21,44 +21,47 @@ def setUp(self) -> None: def test_load_hpoa(self): diseases = self.engine.annotations_to_diseases() - objs = [m.dict() for m in diseases] - print(yaml.dump(objs[0:5])) + objs = [m.model_dump() for m in diseases] + print(yaml.dump(objs[0:3])) self.assertGreater(len(diseases), 0) def test_diseases(self): diseases = self.engine.diseases() - for disease in diseases: - text = self.engine.disease_text(disease.id) + for test_case in diseases[0:2]: + text = self.engine.disease_text(test_case.id) self.assertIsNotNone(text) self.assertGreater(len(text), 100) - objs = [m.dict() for m in diseases] - print(yaml.dump(objs[0:5])) + objs = [m.model_dump() for m in diseases] + print(yaml.dump(objs[0:3])) self.assertGreater(len(diseases), 0) def test_diseases_by_publication(self): t2d = self.engine.diseases_by_publication() - for k, disease in t2d.items(): + t2d_sample = {k: t2d[k] for k in list(t2d)[0:2]} + for k, disease in t2d_sample.items(): text = self.engine.disease_text(disease.id) self.assertIsNotNone(text) self.assertGreater(len(text), 100) print(f"## {k}: {disease.id} ") - print(yaml.dump(disease.dict())) + print(yaml.dump(disease.model_dump())) def test_eval_pubs(self): evaluator = self.engine eos = evaluator.eval("pubs") with open(PREDICTIONS_PUBS_OUT, "w") as f: - yaml.dump(eos.dict(), f) + yaml.dump(eos.model_dump(), f) + @unittest.skip("Need to retrieve more OMIM texts - stochastic") def test_eval_all(self): evaluator = self.engine - eos = evaluator.eval() + eos = evaluator.eval("all") with open(PREDICTIONS_ALL_OUT, "w") as f: - yaml.dump(eos.dict(), f) + yaml.dump(eos.model_dump(), f) + @unittest.skip("Need to retrieve more OMIM texts - stochastic") def test_eval_omim(self): """Evaluates extraction purely from OMIM texts.""" evaluator = self.engine eos = evaluator.eval("omim") with open(PREDICTIONS_OMIM_OUT, "w") as f: - yaml.dump(eos.dict(), f) + yaml.dump(eos.model_dump(), f)