ODCs

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

PROTEIN INTERACTIONS: 2

1 OMIM reference -
4 associated genes
No signs/symptoms info

Severe X-linked mitochondrial encephalomyopathy

Constitutional mismatch repair deficiency syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AIFM1 AIFM1	(0.86) (0.72)	MLH1 PMS2

Citations in the biomedical literature:

Severe X-linked mitochondrial encephalomyopathy		Constitutional mismatch repair deficiency syndrome
	Synonym(s): - Mitochondrial encephalomyopathy due to COXPD6 - Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6		Synonym(s): - CMMR-D syndrome

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

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: - Average age onset: childhood 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.