Hereditary myopathy, oligophrenia, cataract, skeletal abnormalities and hypergonadotropic hypogonadism; a new syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001259:Ataxia / Q000235:genetics / Q000378:metabolism; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002386:Cataract / Q000235:genetics*; D002531:Cerebellum; D005260:Female; D005640:Follicle Stimulating Hormone / Q000378:metabolism; D005660:Funnel Chest / Q000235:genetics; D006062:Gonadotropins / Q000378:metabolism; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics* / Q000378:metabolism; D007986:Luteinizing Hormone / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism; D011712:Pyramidal Tracts; D011859:Radiography; D013035:Spasm / Q000235:genetics; D013064:Speech Disorders / Q000235:genetics; D013577:Syndrome
D006062:Gonadotropins; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone