192500.2.1

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Country

Saudi Arabia

HPO Terms

Generalized-onset seizure; Cyanotic episode; Prolonged QTc interval
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000218.2:c.387-5T>A1
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References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.