608776.1

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Country

United Arab Emirates

HPO Terms

Global developmental delay; Developmental regression; Hypertonia; Seizure; Macrocephaly; Brain atrophy
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Sex

Unknown

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024740.2:c.694G>C2
NM_021075.4:c.552dup2
NM_015158.5:c.1079G>A2
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References

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