615485.1

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Country

Saudi Arabia

HPO Terms

Failure to thrive; Microcephaly; Intellectual disability; Neurodevelopmental delay; Delayed speech and language development; Hypotonia; Muscle weakness
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_030632.3:c.4120_4123dup1
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References

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