Autosomal dominant childhood-onset proximal spinal muscular atrophy

rare

Identifiers: MONDO:0018190 Orphanet:363447
Part of: Proximal spinal muscular atrophy
Also known as: lower extremity-predominant autosomal dominant proximal spinal muscular atrophy · SMALED

Subtypes

Disease	ID	Genes
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	MONDO:0014121	BICD2
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	MONDO:0008026	DYNC1H1
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant	MONDO:0032660	BICD2

Rare disease

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