236200.14

Country

Saudi Arabia

HPO Terms

Hyperhomocystinemia; Hypermethioninemia
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

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

Remarks

Patient IV-9 from Family 12 in the publication
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