615989.1

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Country

Lebanon

HPO Terms

Reduced visual acuity; Rod-cone dystrophy; Truncal obesity; Delayed speech and language development; Astigmatism; Clinodactyly
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Sex

Female

Family History

No

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_152618.3:c.880T>G1
NM_001178007.1:c.265_266del1
NM_152384.3:c.551A>G1
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References

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