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Congenital muscular dystrophy with integrin alpha-7 deficiency
1 OMIM reference -
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital fiber-type disproportion myopathy
Familial isolated dilated cardiomyopathy
Lethal multiple pterygium syndrome
Postsynaptic congenital myasthenic syndromes
Congenital glaucoma
Juvenile glaucoma
Synonym(s):
- Congenital muscular dystrophy with ITGA7 deficiency
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 recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ITGA7 Q13683600536
No signs/symptoms info available.