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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Spinocerebellar ataxia with epilepsy
Autosomal recessive progressive external ophthalmoplegia

POLG POLG
TK2


COMMON
GENES
POLG



Citations in the biomedical literature:


Spinocerebellar ataxia with epilepsy
POLG
Autosomal recessive progressive external ophthalmoplegia
TK2



Spinocerebellar ataxia with epilepsy
Autosomal recessive progressive external ophthalmoplegia

Synonym(s):
- MSCAE
- Mitochondrial spinocerebellar ataxia with epilepsy
- SCAE

Synonym(s):
- arPEO

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.