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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
Combined oxidative phosphorylation defect type 4
Nestor-Guillermo progeria syndrome

TUFM BANF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUFM
(0.63)
BANF1



Citations in the biomedical literature:


Combined oxidative phosphorylation defect type 4
TUFM
Nestor-Guillermo progeria syndrome
BANF1



Combined oxidative phosphorylation defect type 4
Nestor-Guillermo progeria syndrome

Synonym(s):
- COXPD4

Synonym(s):
- NGPS

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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