intellectual disability, autosomal dominant 34

Findings

No curated finding names intellectual disability, autosomal dominant 34 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 non-syndromic intellectual disability

Resolves to: intellectual disability, autosomal dominant 34

Also called

autosomal dominant intellectual disability 34autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BPCOL4A3BP autosomal dominant non-syndromic intellectual disabilityintellectual developmental disorder, autosomal dominant 34intellectual disability, autosomal dominant type 34mental retardation, autosomal dominant type 34MRD34