Rare Disease Library

Leigh syndrome with cardiomyopathy

Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency · Cardiomyopathy with myopathy due to COX deficiency

Distal myopathy

Distal muscular dystrophy

GNE myopathy

DMRV · Distal myopathy with rimmed vacuoles

Laing distal myopathy

Distal myopathy type 1 · MPD1

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Leigh syndrome with leukodystrophy

Infantile subacute necrotizing encephalopathy with leukodystrophy · Leigh disease with leukodystrophy

Leigh syndrome with nephrotic syndrome

Infantile subacute necrotizing encephalopathy with nephrotic syndrome · Leigh disease with nephrotic syndrome

Lysosomal disease with hypertrophic cardiomyopathy

Lysosomal disease with restrictive cardiomyopathy

Mitochondrial disease with dilated cardiomyopathy

Neuromuscular disease with dilated cardiomyopathy

Neutral lipid storage disease with myopathy

Neutral lipid storage disease type M · NLSDM