The familial association of neurofibromatosis, peroneal muscular atrophy, congenital deafness, partial albinism, and Axenfeld's defect.
D000328:Adult; D000417:Albinism / Q000235:genetics*; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics; D003318:Corneal Opacity / Q000175:diagnosis / Q000235:genetics*; D003638:Deafness / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D004576:Electromyography; D005260:Female; D005654:Fundus Oculi; D005901:Glaucoma / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007498:Iris / Q000002:abnormalities; D008854:Microscopy, Electron; D008875:Middle Aged; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics*; D009410:Nerve Degeneration; D009431:Neural Conduction; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010525:Peripheral Nerves / Q000503:physiopathology; D013497:Sural Nerve / Q000473:pathology; D013577:Syndrome