| Metadata | |
|---|---|
| ID | DOID:0111202 |
| Name | autosomal dominant distal hereditary motor neuronopathy 14 |
| Definition | An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. https://www.ncbi.nlm.nih.gov/pubmed/12627231 |
| Xrefs | |
| Synonyms |
DHMN7B [EXACT] distal hereditary motor neuronopathy type 7B [EXACT] distal hereditary motor neuropathy type VIIB [EXACT] distal spinal muscular atrophy with vocal cord paralysis type 7B [EXACT] Harper-Young myopathy [EXACT] HMN VIIB [EXACT] HMN7B [EXACT] |
| Parent Relationships |
is_a autosomal dominant distal hereditary motor neuronopathy |