219700.68.1

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  2. Subject Details

Country

Palestine

HPO Terms

Recurrent upper respiratory tract infections; Exertional dyspnea; Weight loss; Chronic diarrhea; Cirrhosis; Cholestasis; Splenomegaly; Steatorrhea
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.4:c.2490_2490+1insT2NA
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Remarks

Proband

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
219700.68.2PalestineMaleFather of the proband
219700.68.3PalestineFemaleMother of the proband
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.