Ataxia, dwarfism, mental retardation, blindness, deafness, flexion contractures, cataracts, retinal atrophy, microcephaly, and paralysis; autosomal recessive condition leading to death in 2nd-3rd decade.
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