219700.21

Country

Lebanon

HPO Terms

Abnormality of the respiratory system; Abnormality of the digestive system; Exocrine pancreatic insufficiency; Recurrent upper respiratory tract infections; Failure to thrive

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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_000492.4:c.1520_1522del	2	NA	Cystic Fibrosis

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Remarks

Patient from family '289' in the publication

References

Desgeorges et al. 1997