222765.1

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Country

Saudi Arabia

HPO Terms

Global developmental delay; Microcephaly; Anteverted nares; Brachycephaly; Optic disc pallor
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_014236.4:c.569-3T>G2NA
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References

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