219700.54

Country

Saudi Arabia

HPO Terms

Elevated sweat chloride; Failure to thrive; Recurrent lower respiratory tract infections; Vomiting; Cough; Ambiguous genitalia; Elevated circulating 17-hydroxyprogesterone; Bronchiectasis

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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_000492.3:c.579+1G>A	2	NA	Cystic Fibrosis

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Remarks

Patient comorbid for cystic fibrosis and congenital adrenal hyperplasia

References

Banjar, 2001;
Banjar, 2004