has material basis in germline mutation in TMEM94 hereditary disease intellectual developmental disorder with cardiac defects and dysmorphic facies https://github.com/monarch-initiative/mondo/issues/7580 https://www.malacards.org/card/intellectual_developmental_disorder_with_cardiac_defects_and_dysmorphic_facies MEDGEN:1675627 intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:0032672 Orphanet:562569 GARD:0017998 OMIM:618316 A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin. UMLS:C5193024 IDDCDF TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome