intellectual disability, autosomal dominant 40

Findings

No curated finding names intellectual disability, autosomal dominant 40 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

Infantile onset · Neonatal 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

• intellectual disability, autosomal dominant

Resolves to: intellectual disability, autosomal dominant 40

Also called

autosomal dominant intellectual disability 40autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1CHAMP1 autosomal dominant non-syndromic intellectual disabilityintellectual disability, autosomal dominant type 40mental retardation, autosomal dominant type 40MRD40