234200.1

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Country

Saudi Arabia

HPO Terms

Intellectual disability; Motor delay; Delayed speech and language development; Specific learning disability; Abnormal facial shape; Epicanthus; Depressed nasal bridge
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001386393.1:c.498_499del2
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References

© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.