| Metadata | |
|---|---|
| ID | DOID:0111205 |
| Name | autosomal dominant distal hereditary motor neuronopathy 12 |
| Definition | An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. https://www.ncbi.nlm.nih.gov/pubmed/22703882 |
| Xrefs | |
| Synonyms |
distal hereditary motor neuronopathy type 5B [EXACT] distal HMN VB [EXACT] distal spinal muscular atrophy type VB [EXACT] |
| Parent Relationships |
is_a autosomal dominant distal hereditary motor neuronopathy |