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Classic multiminicore myopathy
1 OMIM reference -
2 associated genes
14 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital fiber-type disproportion myopathy
Desmin-related myopathy with Mallory body-like inclusions
Ebstein malformation
Familial isolated dilated cardiomyopathy
Hyaline body myopathy
Laing distal myopathy
Left ventricular noncompaction
Rigid spine syndrome
Helicoid peripapillary chorioretinal degeneration
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Synonym(s):
- Classic MmD
- Classic multiminicore disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MYH7 P12883160760
SEPN1 Q9NZV5606210
No signs/symptoms info available.