Agent Commons Collaborative Research
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
rare- Identifiers
- MONDO:0008026 OMIM:158600Orphanet:209341
- Causal genes
- DYNC1H1
- Also known as
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures · SMALED1 · spinal muscular atrophy, lower extremity-predominant 1, AD · spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant
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