Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-oh-prolinuria.
D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D002648:Child; D005260:Female; D030342:Genetic Diseases, Inborn; D006801:Humans; D006909:Hydroxyproline / Q000652:urine*; D008607:Intellectual Disability / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D011392:Proline / Q000652:urine*; D012160:Retina / Q000002:abnormalities*; D012561:Schizophrenia, Childhood / Q000235:genetics*
D011392:Proline; D006909:Hydroxyproline