has material basis in germline mutation in KAT6A congenital nervous system disorder autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6751 https://www.malacards.org/card/arboleda_tham_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. Arboleda-Tham syndrome mental retardation, autosomal dominant 32 intellectual disability, autosomal dominant 32 MONDO:0014558 NORD:1954 DOID:0070062 Orphanet:457193 intellectual disability, autosomal dominant type 32 autosomal dominant intellectual disability 32 mental retardation, autosomal dominant type 32 GARD:0017797 MEDGEN:903767 UMLS:C4225396 MRD32 OMIM:616268 KAT6A Syndrome autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability syndromic craniosynostosis autosomal dominant non-syndromic intellectual disability cardiogenetic disease autosomal dominant syndromic intellectual disability