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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 associated gene
No signs/symptoms info
17q11 microdeletion syndrome
Adult-onset distal myopathy due to VCP mutation

NF1 VCP
RNF135
SUZ12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NF1
SUZ12
(0.68)
(0.63)
VCP
VCP



Citations in the biomedical literature:


17q11 microdeletion syndrome
NF1 RNF135 SUZ12
Adult-onset distal myopathy due to VCP mutation
VCP



17q11 microdeletion syndrome
Adult-onset distal myopathy due to VCP mutation

Synonym(s):
- Del(17)(q11)
- Monosomy 17q11
- NF1 microdeletion syndrome
- Neurofibromatosis type 1 microdeletion syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.