236200.4.3

Country

Saudi Arabia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000071.3:c.969G>A1NA

Remarks

Mother of 236200.4.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
236200.4.1Saudi ArabiaIntellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Vascular tortuosity; Seizure; Aggressive behavior; Cerebral dysmyelinationMaleNoPatient II-1 from Family 2 in the publication
236200.4.2Saudi ArabiaMaleFather of 236200.4.1
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