619113.1

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Country

United Arab Emirates

HPO Terms

Oculomotor apraxia; Global developmental delay; Hepatomegaly; Generalized hypotonia
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_015272.5:c.1582-1G>C2
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References

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