Term Name: | spinal muscular atrophy with lower extremity predominant 1 |
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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 ) |