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X-linked non progressive cerebellar ataxia
1 OMIM reference -
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Young adult-onset Parkinsonism
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATP2B3 Q16720300014
No signs/symptoms info available.