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Spinocerebellar ataxia with epilepsy
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant progressive external ophthalmoplegia
Alpers syndrome
Autosomal recessive progressive external ophthalmoplegia
Mitochondrial neurogastrointestinal encephalomyopathy
Recessive mitochondrial ataxia syndrome
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Synonym(s):
- MSCAE
- Mitochondrial spinocerebellar ataxia with epilepsy
- SCAE
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
POLG P54098174763
No signs/symptoms info available.