Rare Disease Library

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

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

Action myoclonus-renal failure syndrome

AMRF · Progressive myoclonus epilepsy type 4

Carey-Fineman-Ziter syndrome

Myopathy-Moebius-Robin syndrome

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

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, myopathic form

mtDNA depletion syndrome, myopathic form

Myopathic Ehlers-Danlos syndrome

Myopathic EDS · EDS/myopathy overlap syndrome