201910.26

Country

Lebanon

HPO Terms

Congenital adrenal hyperplasia; Renal salt wasting;
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Sex

Male

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001128590.3:c.203-13C>G1

Remarks

Compound heterozygous with a gene conversion
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