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X-linked distal spinal muscular atrophy
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Menkes disease
Occipital horn syndrome
Aceruloplasminemia
Synonym(s):
- X-linked dHMN
- X-linked dSMA
- X-linked distal hereditary motor neuropathy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATP7A Q04656300011
No signs/symptoms info available.