235550.3.1

Country

Lebanon

HPO Terms

Hepatosplenomegaly; Thrombocytopenia; Portal hypertension;
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_080424.2:c.642del2NA

Remarks

Patient 'C II.1' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
235550.3.2LebanonMaleFather of 235550.3.1
235550.3.3LebanonFemaleMother of 235550.3.1
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