has material basis in germline mutation in OTUD6B congenital nervous system disorder multiple congenital anomalies/dysmorphic syndrome-intellectual disability monogenic epilepsy intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/intellectual_developmental_disorder_with_dysmorphic_facies_seizures_and_distal_limb_anomalies Orphanet:505237 UMLS:C4479520 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}). OMIM:617452 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies MONDO:0044319 IDDFSDA MEDGEN:1375601 GARD:0017942 autosomal recessive syndromic intellectual disability