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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease severe combined immunodeficiency
Comorbidity C0155550|neural deafness
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PubMedID- 24666435 Ak2 gene mutation has been found in patients with reticular dysgenesis, a most severe form of scid (human severe combined immunodeficiencies) which may lead to bilateral sensorineural deafness in affected newborns.

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