602998.1

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Country

Saudi Arabia

HPO Terms

Global developmental delay; Microcephaly; Cerebral atrophy
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Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001363538.2:c.118G>A2
NM_018245.3:c.2486G>C2
NM_003087.3:c.2T>C2
NM_001520.4:c.5326C>T2
NM_004614.5:c.191C>T2
NM_006885.4:c.5544G>T2
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Remarks

Unsolved case

References

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