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619773.1
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Herpes simplex encephalitis; Retinitis; Intraventricular hemorrhage; Cerebral palsy; Optic atrophy; Anemia; Increased mean corpuscular volume; Thrombocytosis; Monocytosis
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_022168.4:c.2062A>G
2
Immunodeficiency 95
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References
Hale et al, 2023
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