Type I hyperprolinemia in a family suffering from aniridia and severe dystrophia of ocular tissues.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000378:metabolism; D007498:Iris / Q000002:abnormalities*; D008297:Male; D011392:Proline / Q000378:metabolism*
D011392:Proline