212140.1.1

Country

Lebanon

HPO Terms

Dyspnea; Recurrent upper respiratory tract infections; Failure to thrive; Congestive heart failure
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001308122.1:c.64_66TTC[1]2NA

Remarks

Patient 'A IV-6' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
212140.1.2LebanonMaleNoNoFather of 2121401.1
212140.1.3LebanonFemaleNoNoMother of 2121401.1
212140.1.4LebanonFemaleYesYesSister of 2121401.1
212140.1.5LebanonFemaleYesYesSister of 2121401.1
212140.1.6LebanonMaleYesYesBrother of 2121401.1
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