249000.4.1

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Country

Saudi Arabia

HPO Terms

Stillbirth; Renal cyst; Encephalocele
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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017777.4:c.1066C>T2
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Remarks

Fetus was presumed to be homozygous based on both parents' DNA. The patient had 2 similarly affected siblings

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
249000.4.2Saudi ArabiaMaleFather of 249000.4.1
249000.4.3Saudi ArabiaFemaleMother of 249000.4.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.