Autosomal dominant intellectual disability‑craniofacial anomalies-cardiac defects syndrome
Engelsk navn: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Engelske synonym: Arboleda-Tham syndrome,KAT6A 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.