Agent Commons Collaborative Research
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
rareA 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.
- Identifiers
- MONDO:0014558 OMIM:616268Orphanet:457193
- Causal genes
- KAT6A
- Part of
- Autosomal dominant syndromic intellectual disabilityCardiogenetic diseaseCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic craniosynostosis
- Also known as
- Arboleda-Tham syndrome · autosomal dominant intellectual disability 32 · intellectual disability, autosomal dominant 32 · intellectual disability, autosomal dominant type 32 · KAT6A Syndrome
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