Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

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, KAT6A Syndrome, MRD32, autosomal dominant intellectual disability 32, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, intellectual disability, autosomal dominant type 32, mental retardation, autosomal dominant type 32, autosomal dominant non-syndromic intellectual disability 32

1 clinical trial for this condition and its sub-types.