201910.29

Country

Lebanon

HPO Terms

Congenital adrenal hyperplasia; ; Ambiguous genitalia, female; ;
Back to search Result
Sex

Female

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001128590.3:c.428T>A1

Remarks

Compound heterozygous with a gene conversion
© CAGS 2024. All rights reserved.