242300.8.1

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Country

Egypt

HPO Terms

Erythroderma; Scaling skin; Ectropion
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000359.3:c.428G>A2
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Remarks

The patient had a similarly affected sister who died as a neonate

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
242300.8.2EgyptFemaleYesYesMother of 242300.8.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.