Rare Disease Library

Carey-Fineman-Ziter syndrome

Myopathy-Moebius-Robin syndrome

Action myoclonus-renal failure syndrome

AMRF · Progressive myoclonus epilepsy type 4

Moebius syndrome

Möbius syndrome

Myopathic Ehlers-Danlos syndrome

Myopathic EDS · EDS/myopathy overlap syndrome

Osteopathia striata-cranial sclerosis syndrome

Hyperostosis generalisata with striations · Robinow-Unger syndrome

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

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

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Robinow-like syndrome

Saal-Greenstein syndrome

Robinow-Sorauf syndrome