202010.1.1

Country

Lebanon

HPO Terms

Clitoral hypertrophy ; Abnormal labia morphology ; Elevated serum 11-deoxycortisol ; Elevated circulating 17-hydroxyprogesterone; Increased serum testosterone level; Hypertension

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000497.3:c.1210dup	2		Adrenal Hyperplasia, Congenital, due to 11-Beta-Hydroxylase Deficiency

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Remarks

Proband

References

Soardi et al, 2009

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
202010.1.2	Lebanon		Female	Yes		Unaffected mother of the proband 202010.1.1