Development in childhood of mental retardation; myopathy (usu. involving proximal limb muscles, external ocular muscles, and masticatory muscles), cataracts, and hypergonadotropic hypogonadism. Condition is autosomal recessive.
InsideSurgery Medical Information Blog
Details of surgical procedures, pathophysiology, signs and symptoms, and treatment of medical diseases,medical and surgical eponyms, and surgeons and surgery in the news