Hypertrophic cardiomyopathy 4
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Sign InDescription
An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.
Mode of Inheritance
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Autosomal dominant (incomplete penetrance)
VARIANTS
247