605231.3

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Country

Saudi Arabia

HPO Terms

Obesity; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_170784.3:c.116C>T2
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Remarks

"BBS-F022-A" in the publication

References

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