| Metadata | |
|---|---|
| ID | DOID:0081400 |
| Name | autosomal dominant distal hereditary motor neuronopathy 11 |
| Definition | An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/33206935/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant distal hereditary motor neuronopathy |