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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 mutation	Chromosome rearrangement	Effect	Comments
abnormal splicing		abnormal protein/loss of function

Remark(s)