252920.1.1

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Country

Jordan

HPO Terms

Intellectual disability; Motor delay; Coarse facial features; Microcephaly; Mid-frequency hearing loss; Hyperactivity; Sleep disturbance; Aggressive behavior
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000263.4:c.934G>A2
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References

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