Rare Disease Library

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency

Mitochondrial DNA depletion syndrome

mtDNA depletion syndrome

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Multiple mitochondrial DNA deletion syndrome

Multiple mtDNA deletion syndrome

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II