/autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Rare Disease

MONDO:0014558

Also Known As

Arboleda-Tham syndromeKAT6A SyndromeMRD32autosomal dominant intellectual disability 32autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeautosomal dominant mental retardation 32intellectual disability, autosomal dominant type 32mental retardation, autosomal dominant type 32autosomal dominant non-syndromic intellectual disability 32intellectual disability, autosomal dominant 32mental retardation, autosomal dominant 32

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.