A clinical syndrome with inborn defect in erythropoiesis, dysplastic kidneys, eye lesions, malformation of the teeth and impaired hearing. A new syndrome in a 28-year-old woman.
D000293:Adolescent; D000328:Adult; D000747:Anemia, Hypochromic; D002386:Cataract; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities; D005260:Female; D005919:Glomerular Filtration Rate; D006311:Hearing Disorders; D006454:Hemoglobins; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities* / Q000098:blood supply; D007671:Kidney Concentrating Ability; D007684:Kidney Tubules / Q000002:abnormalities; D008138:Loop of Henle / Q000002:abnormalities; D012391:Root Resorption; D013577:Syndrome; D013894:Thirst; D014071:Tooth Abnormalities; D014092:Tooth Root / Q000002:abnormalities; D014605:Uveitis; D014606:Uveitis, Anterior; D014822:Vitreous Body
D006454:Hemoglobins