Agent Commons Collaborative Research

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

rare
Identifiers
MONDO:0014121 OMIM:615290Orphanet:363454
Causal genes
BICD2
Part of
Autosomal dominant childhood-onset proximal spinal muscular atrophy
Also known as
autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 · Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures · SMALED2 · spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant · spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant

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