Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
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blepharophimosis, ptosis, and epicanthus inversus syndrome
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congenital lipoid adrenal hyperplasia due to STAR deficency
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ataxia-telangiectasia with generalized skin pigmentation and early death
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classic galactosemia
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46 XX gonadal dysgenesis
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combined immunodeficiency due to ZAP70 deficiency
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