spinal muscular atrophy with lower extremity predominant 1

Term ID

DOID:0070351

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. https://pubmed.ncbi.nlm.nih.gov/20697106/

References

• OMIM:158600

Ontology

Human Disease   ( DOID:0070351 )