| Metadata | |
|---|---|
| ID | DOID:0111196 |
| Name | X-linked distal spinal muscular atrophy 3 |
| Definition | A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. https://www.ncbi.nlm.nih.gov/pubmed/20170900, https://www.ncbi.nlm.nih.gov/pubmed/14985388 |
| Xrefs |
SNOMEDCT_US_2023_03_01:766764008 |
| Subsets |
DO_rare_slim |
| Synonyms |
ATP7A-related distal motor neuropathy [EXACT] DSMAX [EXACT] SMAX3 [EXACT] X-linked dHMN3 [EXACT] X-linked distal hereditary motor neuropathy type 3 [EXACT] X-linked dSMA3 [EXACT] X-linked recessive distal spinal muscular atrophy [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance has symptom some muscle weakness |