201910.7

Country

Tunisia

HPO Terms

Congenital adrenal hyperplasia; Renal salt wasting;
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Sex

Female

Parental Consanguinity

No

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_001128590.3:c.203-13C>G 1

Remarks

Compound heterozygote with a large deletion

References

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