| Metadata | |
|---|---|
| ID | DOID:0111214 |
| Name | autosomal recessive distal hereditary motor neuronopathy 5 |
| Definition | An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. https://www.ncbi.nlm.nih.gov/pubmed/22522442, https://www.ncbi.nlm.nih.gov/pubmed/25274842 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive distal spinal muscular atrophy type 5 [EXACT] distal spinal muscular atrophy type 5 [EXACT] DSMA5 [EXACT] young adult-onset dHMN [EXACT] young adult-onset distal hereditary motor neuropathy [EXACT] |
| Parent Relationships |
is_a autosomal recessive distal hereditary motor neuronopathy |