ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Spinocerebellar ataxia type 12

Methylmalonic acidemia with homocystinuria, type cblX


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PPP2R2B	(0.68)	HCFC1

Citations in the biomedical literature:

Spinocerebellar ataxia type 12		Methylmalonic acidemia with homocystinuria, type cblX
	Synonym(s): - SCA12		Synonym(s): - Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX - Methylmalonic aciduria with homocystinuria, type cblX

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		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		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.