| 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 | |
| Synonyms |
spinal muscular atrophy with lower extremity predominance 1 [EXACT] |
| Parent Relationships |
is_a spinal muscular atrophy with lower extremity predominant |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |