{"disease":{"id":"OMIM:617452","name":"Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies","mondoId":"MONDO:0044319","description":"IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})."},"categories":{"Limbs":[{"id":"HP:0001845","name":"Overlapping toe","metadata":{"sex":"","onset":"","frequency":"3/12","sources":["PMID:28343629"]},"category":"Limbs"},{"id":"HP:0001762","name":"Talipes equinovarus","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Limbs"},{"id":"HP:0001182","name":"Tapered finger","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Limbs"},{"id":"HP:0011304","name":"Broad thumb","metadata":{"sex":"","onset":"","frequency":"6/12","sources":["PMID:28343629"]},"category":"Limbs"}],"Nervous System":[{"id":"HP:0002194","name":"Delayed gross motor development","metadata":{"sex":"","onset":"HP:0003593","frequency":"9/12","sources":["PMID:28343629"]},"category":"Nervous System"},{"id":"HP:0010864","name":"Severe intellectual disability","metadata":{"sex":"","onset":"","frequency":"12/12","sources":["PMID:28343629"]},"category":"Nervous System"},{"id":"HP:0000729","name":"Autistic behavior","metadata":{"sex":"","onset":"","frequency":"3/12","sources":["PMID:28343629"]},"category":"Nervous System"},{"id":"HP:0001250","name":"Seizure","metadata":{"sex":"","onset":"","frequency":"12/12","sources":["PMID:28343629"]},"category":"Nervous System"},{"id":"HP:0002119","name":"Ventriculomegaly","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Nervous System"},{"id":"HP:0002540","name":"Inability to walk","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Nervous System"},{"id":"HP:0000750","name":"Delayed speech and language development","metadata":{"sex":"","onset":"","frequency":"9/12","sources":["PMID:28343629"]},"category":"Nervous System"},{"id":"HP:0002079","name":"Hypoplasia of the corpus callosum","metadata":{"sex":"","onset":"","frequency":"3/12","sources":["PMID:28343629"]},"category":"Nervous System"},{"id":"HP:0001263","name":"Global developmental delay","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Nervous System"}],"Cardiovascular":[{"id":"HP:0001629","name":"Ventricular septal defect","metadata":{"sex":"","onset":"","frequency":"2/6","sources":["PMID:28343629"]},"category":"Cardiovascular"},{"id":"HP:0001631","name":"Atrial septal defect","metadata":{"sex":"","onset":"","frequency":"3/6","sources":["PMID:28343629"]},"category":"Cardiovascular"}],"Growth":[{"id":"HP:0001511","name":"Intrauterine growth retardation","metadata":{"sex":"","onset":"HP:0030674","frequency":"7/12","sources":["PMID:28343629"]},"category":"Growth"},{"id":"HP:0004322","name":"Short stature","metadata":{"sex":"","onset":"","frequency":"7/12","sources":["PMID:28343629"]},"category":"Growth"},{"id":"HP:0004325","name":"Decreased body weight","metadata":{"sex":"","onset":"","frequency":"6/12","sources":["PMID:28343629"]},"category":"Growth"},{"id":"HP:0001508","name":"Failure to thrive","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Growth"}],"Inheritance":[{"id":"HP:0000007","name":"Autosomal recessive inheritance","metadata":{"sex":"","onset":"","frequency":"","sources":["PMID:28343629"]},"category":"Inheritance"}],"Skin, Hair, and Nails":[{"id":"HP:0000960","name":"Sacral dimple","metadata":{"sex":"","onset":"","frequency":"2/12","sources":["PMID:28343629"]},"category":"Skin, Hair, and Nails"}],"Connective tissue":[{"id":"HP:0001371","name":"Flexion contracture","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Connective tissue"}],"Genitourinary system":[{"id":"HP:0000028","name":"Cryptorchidism","metadata":{"sex":"","onset":"","frequency":"","sources":["PMID:28343629"]},"category":"Genitourinary system"}],"Ear":[{"id":"HP:0000369","name":"Low-set ears","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Ear"},{"id":"HP:0000411","name":"Protruding ear","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Ear"},{"id":"HP:0000377","name":"Abnormal pinna morphology","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Ear"},{"id":"HP:0000365","name":"Hearing impairment","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Ear"},{"id":"HP:0000400","name":"Macrotia","metadata":{"sex":"","onset":"","frequency":"7/12","sources":["PMID:28343629"]},"category":"Ear"}],"Digestive System":[{"id":"HP:0011968","name":"Feeding difficulties","metadata":{"sex":"","onset":"","frequency":"9/12","sources":["PMID:28343629"]},"category":"Digestive System"},{"id":"HP:0012450","name":"Chronic constipation","metadata":{"sex":"","onset":"","frequency":"2/12","sources":["PMID:28343629"]},"category":"Digestive System"}],"Musculature":[{"id":"HP:0002510","name":"Spastic tetraplegia","metadata":{"sex":"","onset":"","frequency":"2/12","sources":["PMID:28343629"]},"category":"Musculature"},{"id":"HP:0001290","name":"Generalized hypotonia","metadata":{"sex":"","onset":"","frequency":"9/12","sources":["PMID:28343629"]},"category":"Musculature"},{"id":"HP:0001276","name":"Hypertonia","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Musculature"}],"Head and neck":[{"id":"HP:0000248","name":"Brachycephaly","metadata":{"sex":"","onset":"","frequency":"1/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0000470","name":"Short neck","metadata":{"sex":"","onset":"","frequency":"3/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0000252","name":"Microcephaly","metadata":{"sex":"","onset":"HP:0003593","frequency":"9/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0000278","name":"Retrognathia","metadata":{"sex":"","onset":"","frequency":"4/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0000219","name":"Thin upper lip vermilion","metadata":{"sex":"","onset":"","frequency":"6/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0000527","name":"Long eyelashes","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Head and neck"},{"id":"HP:0000343","name":"Long philtrum","metadata":{"sex":"","onset":"","frequency":"7/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0000218","name":"High palate","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Head and neck"},{"id":"HP:0000276","name":"Long face","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Head and neck"},{"id":"HP:0000494","name":"Downslanted palpebral fissures","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Head and neck"},{"id":"HP:0000426","name":"Prominent nasal bridge","metadata":{"sex":"","onset":"","frequency":"5/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0005469","name":"Flat occiput","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Head and neck"},{"id":"HP:0000431","name":"Wide nasal bridge","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:617452"]},"category":"Head and neck"},{"id":"HP:0000637","name":"Long palpebral fissure","metadata":{"sex":"","onset":"","frequency":"6/12","sources":["PMID:28343629"]},"category":"Head and neck"},{"id":"HP:0002553","name":"Highly arched eyebrow","metadata":{"sex":"","onset":"","frequency":"3/12","sources":["PMID:28343629"]},"category":"Head and neck"}],"Skeletal system":[{"id":"HP:0200021","name":"Down-sloping shoulders","metadata":{"sex":"","onset":"","frequency":"3/12","sources":["PMID:28343629"]},"category":"Skeletal system"},{"id":"HP:0002650","name":"Scoliosis","metadata":{"sex":"","onset":"","frequency":"5/12","sources":["PMID:28343629"]},"category":"Skeletal system"}]},"genes":[{"id":"NCBIGene:51633","name":"OTUD6B"}],"medicalActions":[]}