ODCs

Click node...

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

Sensory ataxic neuropathy - dysarthria - ophthalmoparesis

POLG	(UniProt - OMIM)		C10ORF2	(UniProt - OMIM)
			POLG	(UniProt - OMIM)

Citations in the biomedical literature:

Spinocerebellar ataxia with epilepsy		Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
	Synonym(s): - MSCAE - Mitochondrial spinocerebellar ataxia with epilepsy - SCAE		Synonym(s): - SANDO

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the nervous system -

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537583

No signs/symptoms info available.