SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1255319004
http://purl.bioontology.org/ontology/SNOMEDCT/1255319004
Preferred Name

Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome

Definitions
A rare genetic neurodevelopmental disorder with characteristics of global developmental delay and variable degrees of intellectual disability 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. The disorder is caused by heterozygous pathogenic variants affecting the KAT6A gene (8p11.21) which encodes for a lysine (K) acetyltransferase 6A that forms part of a histone acetyltransferase complex regulating transcriptional activity and gene expression. The disorder is autosomal dominant, most cases are sporadic due to de novo variants.
Synonyms
Arboleda Tham syndrome
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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