Arboleda-Tham Syndrome (ARTHS)

Arboleda-Tham Syndrome, also known as autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, is related to hypotonia and microcephaly. An important gene associated with Arboleda-Tham Syndrome is KAT6A (Lysine Acetyltransferase 6A). Affiliated tissues include eye and brain, and related phenotypes are global developmental delay and abnormal facial shape