613953.4.4

Country

Saudi Arabia

HPO Terms

Chronic mucocutaneous candidiasis; Folliculitis; Chronic furunculosis
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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

Cousin of 613953.4.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613953.4.1Saudi ArabiaChronic mucocutaneous candidiasisFemaleYesYesPatient from 'kindred J' in the publication.
613953.4.2Saudi ArabiaChronic mucocutaneous candidiasisMaleYesYesBrother of 613953.4.1
613953.4.3Saudi 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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