Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.
D001842:Bone and Bones / Q000002:abnormalities*; D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics*; D002648:Child; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006621:Hip Joint; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D009999:Ossification, Heterotopic / Q000000981:diagnostic imaging; D011859:Radiography; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics*; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging