| Metadata | |
|---|---|
| ID | DOID:0081399 |
| Name | autosomal dominant distal hereditary motor neuronopathy 10 |
| Definition | An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. https://pubmed.ncbi.nlm.nih.gov/31978608/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant distal hereditary motor neuronopathy |