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Metadata
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

MIM:158600

Synonyms

spinal muscular atrophy with lower extremity predominance 1 [EXACT]

Parent Relationships

is_a spinal muscular atrophy with lower extremity predominant

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