intellectual disability, autosomal dominant 5

Findings

No curated finding names intellectual disability, autosomal dominant 5 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

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

• infantile epilepsy syndrome
• intellectual disability, autosomal dominant

Resolves to: intellectual disability, autosomal dominant 5

Also called

autosomal dominant intellectual disability 5autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1epilepsy due to SYNGAP mutationsintellectual disability, autosomal dominant type 5mental retardation, autosomal dominant type 5MRD5SYNGAP1 autosomal dominant non-syndromic intellectual disabilitySYNGAP1-related developmental and epileptic encephalopathy