syndromic intellectual disability multiple congenital anomalies/dysmorphic syndrome-intellectual disability severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/severe_intellectual_disability_epilepsy_anal_anomalies_distal_phalangeal_hypoplasia_2 UMLS:C4510007 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localized to chromosome 1 and the other to chromosome 14. MEDGEN:1372948 MONDO:0019786 GARD:0019247 Orphanet:94066