| Metadata | |
|---|---|
| ID | DOID:0081426 |
| Name | autosomal recessive distal hereditary motor neuronopathy 7 |
| Definition | An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/33459760/, https://pubmed.ncbi.nlm.nih.gov/33559681/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive distal hereditary motor neuronopathy |