ataxia telangiectasia
MONDO:0008840Also known as: Louis-Bar syndrome, ataxia - telangiectasia, ataxia telangiectasia, ataxia telangiectasia syndrome, AT
Rare disease34 associated genes
Description
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.
Associated genes
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