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Summary Literature (0)
MIM:158600 - SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT; SMALED1

Xenbase Genes: dync1h1

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008026 - autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
MONDO:0018190 - autosomal dominant childhood-onset proximal spinal muscular atrophy

Disease Ontology (DO):
DOID:0070351 - spinal muscular atrophy with lower extremity predominant 1