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skos:definition |
MSH: An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).,CSP: inherited disease characterized by onset in early childhood of progressive cerebellar ataxia, oculocutaneous telangiectasis, and severe sinopulmonary infections.,MEDLINEPLUS: <p>Ataxia-telangiectasia (AT) is a rare, inherited disease that affects the nervous system, immune system and other body systems. Symptoms appear in young children and include</p><ul><li> Ataxia - trouble coordinating moveme
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