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Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
1 OMIM reference -
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Adenosine monophosphate deaminase deficiency
Synonym(s):
- HIBM3
- Hereditary inclusion body myopathy type 3
- IBM3
- Inclusion body myopathy type 3
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MYH2 Q9UKX2160740
No signs/symptoms info available.