[Proportioned dwarfism combined with ocular myopathy, recurring corneal edema, tapetoretinal degeneration, hearing loss of the inner ear and diabetes mellitus].
D000328:Adult; D003316:Corneal Diseases / Q000150:complications*; D003638:Deafness / Q000150:complications*; D048909:Diabetes Complications; D004392:Dwarfism / Q000150:complications*; D004487:Edema / Q000150:complications; D005128:Eye Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D009801:Oculomotor Muscles; D012162:Retinal Degeneration / Q000150:complications*; D013577:Syndrome
Proportionierter Zwergwuchs in Verbindung mit oculärer Myopathie, rezidivierenden Hornhautödemen, tapetoretinaler Degeneration, Innenohrschwerhörigkeit und Diabetes mellitus