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615122.3
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Subject Details
Country
Lebanon
HPO Terms
Failure to thrive; Lymphopenia; Immunodeficiency; Recurrent lower respiratory tract infections; Recurrent pneumonia; Recurrent tonsillitis; Childhood onset
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Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001242.4:c.158G>A
2
Lymphoproliferative Syndrome 2
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References
Nair et al. 2018
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