| Metadata | |
|---|---|
| ID | DOID:0081427 |
| Name | autosomal recessive distal hereditary motor neuronopathy 8 |
| Definition | An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. https://pubmed.ncbi.nlm.nih.gov/32367058/ |
| Xrefs | |
| Alternateids |
DOID:0081376 |
| Synonyms |
sorbitol dehydrogenase deficiency with peripheral neuropathy [EXACT] SORDD [EXACT] |
| Parent Relationships |
is_a autosomal recessive distal hereditary motor neuronopathy |