236200.4.1

Country

Saudi Arabia

HPO Terms

Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Vascular tortuosity; Seizure; Aggressive behavior; Cerebral dysmyelination
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Sex

Male

Family History

No

Subject Variants

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

Remarks

Patient II-1 from Family 2 in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
236200.4.2Saudi ArabiaMaleFather of 236200.4.1
236200.4.3Saudi ArabiaFemaleMother of 236200.4.1
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