236200.8.3

Country

Saudi Arabia

HPO Terms

Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Asthma
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Sex

Female

Family History

Yes

Subject Variants

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

Remarks

Patient II-1 from Family 6 in the publication, sister of 236200.8.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
236200.8.1Saudi ArabiaHyperhomocystinemiaFemaleYesPatient II-3 from Family 6 in the publication
236200.8.2Saudi ArabiaHyperhomocystinemia; Lens subluxation; Scoliosis; OsteoporosisFemaleYesPatient II-2 from Family 6 in the publication, sister of 236200.8.1
236200.8.4Saudi ArabiaFemaleMother of 236200.8.1
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