613953.1

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Country

Morocco

HPO Terms

Chronic mucocutaneous candidiasis; Pustule; Folliculitis
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_014339.7:c.850C>T2NA
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Remarks

Patient from 'kindred A' in Lévy et al. 2016.

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613953.5MoroccoImmunodeficiencyMaleYes
613953.6MoroccoChronic oral candidiasisMaleYes
613953.7MoroccoOnycholysis; Ichthyosis; Chronic mucocutaneous candidiasisMale
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.