Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. A distinct inherited syndrome.
Two 46,XY brothers were found to have a previously undescribed syndrome characterized by severe mental deficiency, proportionate dwarfism, and delayed sexual development. A recessive mode of inheritance, either autosomal or X-linked, is assumed.
D000293:Adolescent; D004392:Dwarfism / Q000097:blood / Q000235:genetics*; D006130:Growth Disorders / Q000097:blood / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000097:blood / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010908:Pituitary Hormones, Anterior / Q000097:blood; D011628:Puberty, Delayed / Q000097:blood / Q000235:genetics*; D013577:Syndrome; D013739:Testosterone / Q000097:blood
D010908:Pituitary Hormones, Anterior; D013739:Testosterone