216550.10

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Country

Saudi Arabia

HPO Terms

Motor delay; Delayed speech and language development; Developmental regression; Hypotonia; Microcephaly; Brain atrophy; Intrauterine growth retardation
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_152564.5:c.1219C>T2
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References

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