has material basis in germline mutation in CTCF congenital nervous system disorder CTCF-related neurodevelopmental disorder https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/8968 https://github.com/monarch-initiative/mondo/issues/9168 https://github.com/monarch-initiative/mondo/issues/9411 https://www.malacards.org/card/ctcf_related_disorder https://www.malacards.org/card/intellectual_developmental_disorder_autosomal_dominant_21 MEDGEN:816016 intellectual disability, autosomal dominant 21 intellectual development disorder, autosomal dominant 21 MRD21 GARD:0017566 intellectual disability, autosomal dominant type 21 mental retardation, autosomal dominant type 21 Orphanet:363611 A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome DOID:0070051 OMIM:615502 mental retardation, autosomal dominant 21 UMLS:C3809686 MONDO:0014213 multiple congenital anomalies/dysmorphic syndrome-intellectual disability autosomal dominant non-syndromic intellectual disability autosomal dominant syndromic intellectual disability neurodevelopmental disorder