236200.6.1

Country

Saudi Arabia

HPO Terms

Hyperhomocystinemia
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000071.3:c.969G>A2NA

Remarks

Patient IV-1 from Family 4 in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
236200.6.2Saudi ArabiaMaleYesYesBrother of 236200.6.1
236200.6.3Saudi ArabiaMaleYesYesBrother of 236200.6.1
236200.6.4Saudi ArabiaMaleFather of 236200.6.1
236200.6.5Saudi ArabiaFemaleMother of 236200.6.1
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