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201910.17
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Subject Details
Country
Lebanon
HPO Terms
Congenital adrenal hyperplasia; Renal salt wasting;
Associated Disease
Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
Variants
NM_001128590.3:c.203-13C>G
NM_001128590.3:c.242_249delGAGACTAC
Remarks
Compound heterozygote
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Sex
Female
Parental Consanguinity
No
References
Delague et al, 2000
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