intellectual disability, autosomal dominant 16

Findings

No curated finding names intellectual disability, autosomal dominant 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

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 disease
• BAFopathy
• Coffin-Siris syndrome

Resolves to: intellectual disability, autosomal dominant 16

Also called

autosomal dominant intellectual disability 16COFFIN-SIRIS syndrome 4Coffin-Siris syndrome caused by mutation in SMARCA4CSS4intellectual disability, autosomal dominant type 16mental retardation, autosomal dominant type 16MRD16SMARCA4 Coffin-Siris syndromeSMARCA4-related BAFopathy