618795.1.1

Country

Lebanon

HPO Terms

Juvenile rheumatoid arthritis; Lymphadenopathy; Quotidian fever; Elevated circulating C-reactive protein concentration; Thrombocytopenia; Acute lymphoblastic leukemia
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_153218.4:c.827del2

Remarks

Proband

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
618795.1.2LebanonJuvenile rheumatoid arthritis; Elevated circulating C-reactive protein concentrationFemaleYesYesSister of 618795.1.1
618795.1.3LebanonMaleFather of 618795.1.1
618795.1.4LebanonFemaleMother of 618795.1.1
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