219700.53

Country

Saudi Arabia

HPO Terms

Recurrent lower respiratory tract infections; Vomiting; Diarrhea; Dysuria; Hematuria; Hyperhidrosis; Hypokalemic hypochloremic metabolic alkalosis; Hypochromic microcytic anemia; Elevated sweat chloride; Hypercalciuria; Hyperuricosuria; Gastroesophageal reflux

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000492.3:c.416A>T	1	NA	Cystic Fibrosis
NM_000492.3:c.1647T>G	1	NA	Cystic Fibrosis

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Remarks

Patient comorbid for cystic fibrosis (compound heterozygous for CFTR mutations) and sickle cell disease

References

Banjar, 2002;
Banjar, 2004