Rare Disease Library

DNA2-related mitochondrial DNA deletion syndrome

Mitochondrial DNA deletion syndrome with limb-girdle weakness · mtDNA deletion syndrome with limb-girdle weakness

4q25 proximal deletion syndrome

Proximal del(4)(q25) · Proximal monosomy 4q25

Mitochondrial DNA depletion syndrome

mtDNA depletion syndrome

Mitochondrial DNA depletion syndrome, encephalomyopathic form

mtDNA depletion syndrome, encephalomyopathic form

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Booth-Haworth-Dilling syndrome · Mitochondrial encephalomyopathy-aminoacidopathy syndrome

Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy

Mitochondrial DNA depletion syndrome, myopathic form

mtDNA depletion syndrome, myopathic form

Multiple mitochondrial DNA deletion syndrome

Multiple mtDNA deletion syndrome

OBSOLETE: Cleft lip-retinopathy syndrome

OBSOLETE: Cleft lip-progressive retinopathy syndrome · OBSOLETE: Ausems-Wittebol Post-Hennekam syndrome

Potocki-Shaffer syndrome

11p11.2 deletion · Proximal 11p deletion syndrome

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

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