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Atassia teleangectasia
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  • Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene
  • Variant ataxia telangiectasia identified during evaluation for short stature
  • Variant ataxia-telangiectasia with prominent camptocormia.

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Atassia teleangectasia
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