| Metadata | |
|---|---|
| ID | DOID:0111211 |
| Name | autosomal recessive distal hereditary motor neuronopathy 3 |
| Definition | An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. https://www.ncbi.nlm.nih.gov/pubmed/15054395 |
| Xrefs |
SNOMEDCT_US_2023_03_01:770430000 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive distal spinal muscular atrophy type 3 [EXACT] dHMN3 and dHMN4 [EXACT] distal hereditary motor neuropathy type 3 and type 4 [EXACT] distal spinal muscular atrophy type 3 [EXACT] dSMA3 [EXACT] |
| Parent Relationships |
is_a autosomal recessive distal hereditary motor neuronopathy |