intellectual developmental disorder 62

Findings

No curated finding names intellectual developmental disorder 62 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

• autosomal dominant non-syndromic intellectual disability

Resolves to: intellectual developmental disorder 62

Also called

autosomal dominant intellectual developmental disorder-62DLG4 synaptopathyDLG4-related synaptopathyintellectual developmental disorder, autosomal dominant 62SHINE syndromesleep disturbances, hypotonia, intellectual disability, neurologic disorder, and epilepsy syndrome