Rare Disease Library

Glycogen storage disease with hypertrophic cardiomyopathy

GSD with hypertrophic cardiomyopathy · Glycogenosis with hypertrophic cardiomyopathy

Congenital disorder of glycosylation with dilated cardiomyopathy

CDG with dilated cardiomyopathy

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Fatal congenital hypertrophic cardiomyopathy due to GSD · Fatal congenital hypertrophic cardiomyopathy due to glycogenosis

Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

GSD type 15 · GSD type XV

Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation

Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation · Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

COXPD16 · Combined oxidative phosphorylation defect type 16

Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy

Lysosomal disease with hypertrophic cardiomyopathy

Mitochondrial disease with hypertrophic cardiomyopathy

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

COXPD10 · Combined oxidative phosphorylation defect type 10

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

Non-familial hypertrophic cardiomyopathy

Rare familial disorder with hypertrophic cardiomyopathy

Rare familial disorder with hypertrophic obstructive cardiomyopathy · Rare familial disorder with hypertrophic subaortic stenosis

Rare hypertrophic cardiomyopathy

Syndrome associated with hypertrophic cardiomyopathy