lethal congenital glycogen storage disease of heart (Q30988797)
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glycogen storage disease characterized by autosomal dominant inheritance of glycogenosis confined to the heart, hypoglycemia and cyanosis that has material basis in heterozygous mutation in the PRKAG2 gene on chromosome 7q36
- fatal congenital nonlysosomal cardiac glycogenosis
- fatal congenital hypertrophic cardiomyopathy due to glycogenosis
- fatal congenital hypertrophic cardiomyopathy due to GSD
- phosphorylase kinase deficiency of heart
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
- GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
- Glycogen Storage Disease of Heart
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | lethal congenital glycogen storage disease of heart |
glycogen storage disease characterized by autosomal dominant inheritance of glycogenosis confined to the heart, hypoglycemia and cyanosis that has material basis in heterozygous mutation in the PRKAG2 gene on chromosome 7q36 |
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