249000.1.1

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  2. Subject Details

Country

Saudi Arabia

HPO Terms

Stillbirth; Renal cyst; Oligohydramnios; Encephalocele; Talipes equinovarus
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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_017777.3:c.417+1G>A2
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Remarks

The patient had a similarly affected sibling

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
249000.1.2Saudi ArabiaFemaleMother of 249000.1.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.