Metadata | |
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ID | DOID:0070351 |
Name | spinal muscular atrophy with lower extremity predominant 1 |
Definition | A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/20697106/ |
Xrefs | |
Synonyms |
spinal muscular atrophy with lower extremity predominance 1 [EXACT] |
Parent Relationships |
is_a spinal muscular atrophy with lower extremity predominant |