A childhood syndrome of bone dysplasia, retinal detachment and deafness.
D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000150:complications; D002648:Child; D003638:Deafness / Q000150:complications*; D004392:Dwarfism / Q000150:complications; D006801:Humans; D010009:Osteochondrodysplasias / Q000150:complications*; D012163:Retinal Detachment / Q000150:complications*