615986.2.2

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Country

Saudi Arabia

HPO Terms

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

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_198428.3:c.(443-1675_443-1116)_(618-986_618-508)del2
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Remarks

Sibling of 615986.2.1 "BBS-F015-B" in the publication

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615986.2.1Saudi ArabiaRod-cone dystrophyFemaleYesYes"BBS-F015-A" in the publication
615986.2.3Saudi ArabiaRod-cone dystrophyFemaleYesYesSibling of 615986.2.1 "BBS-F015-C" in the publication
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.