Rare Disease Library

Mitochondrial DNA depletion syndrome, myopathic form

mtDNA depletion syndrome, myopathic form

21q deletion syndrome

21q- syndrome · Partial 21q monosomy

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

DNA2-related mitochondrial DNA deletion syndrome

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

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, encephalomyopathic form with variable craniofacial anomalies

mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Mitochondrial DNA depletion syndrome, hepatocerebral form

mtDNA depletion syndrome, hepatocerebral form · Deoxyguanosine kinase deficiency

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

mtDNA depletion syndrome, hepatocerebrorenal form

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multiple mitochondrial DNA deletion syndrome

Multiple mtDNA deletion syndrome

Myopathic Ehlers-Danlos syndrome

Myopathic EDS · EDS/myopathy overlap syndrome

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

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