Ataxia-telangiectasia.
Ataxia-telangiectasia is an autosomal recessive disorder characterized by early ataxia, oculocutaneous telangiectasias, sinopulmonary infections, selective immunodeficiency, and a high risk of malignancy. The appearance of the telangiectasias often allows the diagnosis to be made in a child with ataxia.
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D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D006801:Humans; D012306:Risk