autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Findings

No curated finding names autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Congenital onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal dominant syndromic intellectual disability
• cardiogenetic disease
• congenital nervous system disorder
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• syndromic craniosynostosis

Resolves to: autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Also called

Arboleda-Tham syndromeautosomal dominant intellectual disability 32intellectual disability, autosomal dominant type 32KAT6A Syndromemental retardation, autosomal dominant type 32MRD32