Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002386:Cataract / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics*; D007596:Joints / Q000002:abnormalities; D007738:Kyphosis / Q000235:genetics; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics; D008831:Microcephaly / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities