autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Findings

No curated finding names autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 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 · Juvenile 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 childhood-onset proximal spinal muscular atrophy

Resolves to: autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Also called

Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contracturesSMALED2spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant