| Metadata | |
|---|---|
| ID | DOID:0111215 |
| Name | autosomal dominant distal hereditary motor neuronopathy 8 |
| Definition | An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. https://www.ncbi.nlm.nih.gov/pubmed/20037588, https://www.ncbi.nlm.nih.gov/pubmed/21336783, https://www.ncbi.nlm.nih.gov/pubmed/4056805 |
| Xrefs | |
| Synonyms |
autosomal dominant benign distal spinal muscular atrophy [EXACT] autosomal dominant congenital benign spinal muscular atrophy [EXACT] congenital benign spinal muscular atrophy with contractures [EXACT] congenital nonprogressive spinal muscular atrophy [EXACT] DHMN8 [EXACT] distal hereditary motor neuronopathy type 8 [EXACT] distal hereditary motor neuropathy type VIII [EXACT] HMN8 [EXACT] |
| Parent Relationships |
is_a autosomal dominant distal hereditary motor neuronopathy |