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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Adult-onset distal myopathy due to VCP mutation
Endocrine-cerebro-osteodysplasia syndrome

VCP ICK


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.63)
ICK



Citations in the biomedical literature:


Adult-onset distal myopathy due to VCP mutation
VCP
Endocrine-cerebro-osteodysplasia syndrome
ICK



Adult-onset distal myopathy due to VCP mutation
Endocrine-cerebro-osteodysplasia syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- ECO syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
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: before age 5
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.