236200.5.3

Country

Saudi Arabia

HPO Terms

Hyperhomocystinemia; Hypermethioninemia
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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-4 from Family 3 in the publication, sister of 236200.5.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
236200.5.1Saudi ArabiaIntellectual disability; Hyperhomocystinemia; Lens subluxation;FemaleYesPatient II-3 from Family 3 in the publication
236200.5.2Saudi ArabiaIntellectual disability; Hyperhomocystinemia; Lens subluxation; Scoliosis; Osteoporosis; Osteoarthritis; Paraparesis; Hypertension; Sinus tachycardia; Vascular tortuosityFemaleYesPatient II-2 from Family 3 in the publication, sister of 236200.5.1
236200.5.4Saudi ArabiaIntellectual disability; Hyperhomocystinemia; Lens subluxation; Osteoporosis; OsteoarthritisMaleYesPatient II-1 from Family 3 in the publication, brother of 236200.5.1
236200.5.5Saudi ArabiaHyperhomocystinemiaFemalePatient I-1 from Family 3 in the publication, mother of 236200.5.1
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