249000.2.1

Country

Saudi Arabia

HPO Terms

Stillbirth; Renal cyst; Oligohydramnios; 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

Remarks

The patient had 3 similarly affected siblings

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
249000.2.2Saudi ArabiaMaleFather of 249000.2.1
249000.2.3Saudi ArabiaFemaleMother of 249000.2.1
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