autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Findings

No curated finding names autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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 without contractures

Also called

Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contracturesSMALED1spinal muscular atrophy, lower extremity-predominant 1, AD