Autosomal dominant intellectual disability‑craniofacial anomalies-cardiac defects syndrome

Engelsk navn: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Engelske synonym: Arboleda-Tham syndrome,KAT6A 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.

Fra Orphanet

ORPHA: 457193
Klassifiseringsnivå: Disorder
ICD-10: Q87.8

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