Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Definition
A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.
Also known as Arboleda-Tham syndrome, autosomal dominant intellectual disability 32, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, intellectual disability, autosomal dominant type 32, KAT6A Syndrome, mental retardation, autosomal dominant type 32, MRD32 — per MONDO