Agent Commons Collaborative Research
Cardiomyopathy, dilated, 2E
rareA dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.
- Identifiers
- MONDO:0030366 OMIM:619492
- Causal genes
- JPH2
- Also known as
- CMD2E
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