neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

Findings

No curated finding names neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism 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 · Childhood 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 cerebellar ataxia type I
• Mendelian neurodevelopmental disorder
• monogenic epilepsy

Resolves to: neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

Also called

PUM1-associated developmental disability-ataxia-seizure syndrome