| Metadata | |
|---|---|
| ID | DOID:0111212 |
| Name | autosomal dominant distal hereditary motor neuronopathy 9 |
| Definition | An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. https://www.ncbi.nlm.nih.gov/pubmed/28369220 |
| Xrefs | |
| Synonyms |
DHMN9 [EXACT] distal hereditary motor neuronopathy type 9 [EXACT] distal hereditary motor neuropathy type IX [EXACT] HMN9 [EXACT] |
| Parent Relationships |
is_a autosomal dominant distal hereditary motor neuronopathy |