256731.2

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Country

Saudi Arabia

HPO Terms

Seizure; Failure to thrive; Motor delay; Delayed speech and language development; Global developmental delay; Abnormal facial shape; Microcephaly; Developmental regression
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006493.4:c.448C>T1
NM_006493.4:c.510_514dup1
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References

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