201910.19.1

Country

Lebanon

HPO Terms

Congenital adrenal hyperplasia; Renal salt wasting;
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001128590.3:c.203-13C>G2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
201910.19.2LebanonCongenital adrenal hyperplasia; Renal salt wasting;FemaleYesYesSister of 201910.19.1
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