613953.4.2

Country

Saudi Arabia

HPO Terms

Chronic mucocutaneous candidiasis
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_014339.7:c.268del2NA

Remarks

Brother of 613953.4.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613953.4.1Saudi ArabiaChronic mucocutaneous candidiasisFemaleYesYesPatient from 'kindred J' in the publication.
613953.4.3Saudi ArabiaChronic mucocutaneous candidiasis; Folliculitis; Chronic furunculosisMaleYesYesCousin of 613953.4.1
613953.4.4Saudi ArabiaChronic mucocutaneous candidiasis; Folliculitis; Chronic furunculosisMaleYesYesCousin of 613953.4.1
613953.4.GSaudi ArabiaUnaffected relatives of 613953.4.1 (parents, one sister, one uncle, one aunt, and two cousins).
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