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GENATLAS PHENOTYPE
last update : 11-01-2023
Symbol CFMH4
Location 11p11.2
Name cardiomyopathy, familial hypertrophic, 4
Corresponding gene MYBPC3
Main clinical features
  • severe neonatal hypertrophic cardiomyopathy
  • signs and symptoms of congestive heart failure during the first 3 weeks of life; echocardiography revealed hypertrophic non-obstructive cardiomyopathy; life span averaging 3-4 months with death from heart failure before 1 year of age unless a heart transplant
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   abnormal protein/loss of function  
    Remark(s)