242100.2.1

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Country

United Arab Emirates

HPO Terms

Congenital nonbullous ichthyosiform erythroderma; Neonatal sepsis; Pneumonia; Glabellar hemangioma; Abnormality of the palmar creases; Contracture of the proximal interphalangeal joint of the 5th finger; Blue nevus; Cutis marmorata; Prominent forehead; Wide nasal bridge; Micrognathia
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001139.3:c.944T>C2
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
242100.2.2United Arab EmiratesMaleUnaffected father of 242100.2.1
242100.2.3United Arab EmiratesFemaleUnaffected mother of 242100.2.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.