201910.G.2 - CAGS

201910.G.2

Country

Tunisia

HPO Terms

Congenital adrenal hyperplasia; Renal salt wasting;

Associated Disease

Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency

Variants

NM_001128590.3:c.865C>T

Remarks

3 unrelated patients

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Sex

Male

Parental Consanguinity

Yes

References

Kharrat et al. 2004

© CAGS 2022. All rights reserved.

© CAGS 2022. All rights reserved.