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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
3 associated genes
No signs/symptoms info
Severe X-linked mitochondrial encephalomyopathy
Male infertility with normal virilization due to meiosis defect

AIFM1 CFTR
SOHLH1
SYCP3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AIFM1
(0.72)
CFTR



Citations in the biomedical literature:


Severe X-linked mitochondrial encephalomyopathy
AIFM1
Male infertility with normal virilization due to meiosis defect
CFTR SOHLH1 SYCP3



Severe X-linked mitochondrial encephalomyopathy
Male infertility with normal virilization due to meiosis defect

Synonym(s):
- Mitochondrial encephalomyopathy due to COXPD6
- Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6

Synonym(s):
- Azoospermia due to maturation arrest
- Azoospermia due to meiosis defect
- Male infertility with normal virilization due to maturation arrest

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic 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: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.