KAT6A and autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome: Patients with KAT6A pathogenic variants have Arboleda-Tham syndrome (OMIM 616268), an AD disease characterized by microcephaly, hypertonia, cardiac anomalies, gastrointestinal reflux, feeding difficulties, failure to thrive, and developmental delay [24, 25].