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GENATLAS PHENOTYPE
last update : 06-02-2019
Symbol BTHS2
Location 18q12.1
Name noncompaction of left ventricular myocardium with congenital heart defects
Corresponding gene DTNA
Main clinical features associated with dilated cardiomyopathy Barth syndrome, in a japanese family
Genetic determination autosomal dominant
Function/system disorder cardiovascular
Type disease
Gene product
Name alpha dystrobrevin,missense mutation (P121L)
Remark(s)