| Term Name: | spinal muscular atrophy with lower extremity predominant 1 |
|---|---|
| Synonyms: | spinal muscular atrophy with lower extremity predominance 1 |
| Definition: | A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. |
| Ontology: | Human Disease [DOID:0070351] ( DOID:0070351 ) |