Congenital athetosis, mental deficiency, dwarfism and laxity of skin and ligaments.
D001264:Athetosis / Q000175:diagnosis*; D002648:Child; D003483:Cutis Laxa / Q000175:diagnosis*; D003582:Cytogenetics; D004392:Dwarfism / Q000175:diagnosis*; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008022:Ligaments; D008297:Male; D011392:Proline / Q000378:metabolism
D011392:Proline