Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome: clinical, structural and biochemical studies.
D002386:Cataract / Q000235:genetics*; D002675:Child, Preschool; D005500:Follow-Up Studies; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009401:Nephrosis / Q000235:genetics*; D010641:Phenotype; D012868:Skin Abnormalities; D013577:Syndrome