600151.4.1

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Country

Saudi Arabia

HPO Terms

Obesity; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001278293.3:c.480-1700_535+2392del2
NM_033028.5:c.405+17C>T1
NM_033028.5:c.1248+65C>T1
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Remarks

"BBS-F018-A" in the publication

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
600151.4.2Saudi ArabiaObesity; Rod-cone dystrophy; Polydactyly; Round faceFemaleYesYesSibling of 600151.4.1 "BBS-F018-B" in the publication
600151.4.3Saudi ArabiaObesity; Rod-cone dystrophy; Polydactyly; Round faceFemaleYesYesSibling of 600151.4.1 "BBS-F018-C" in the publication
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.