615982.5.2

Country

Saudi Arabia

HPO Terms

Obesity; Rod-cone dystrophy; Polydactyly; Round face
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_033028.4:c.157-2A>G2
NM_198428.3:c.1546C>A1

Remarks

Sibling of 615982.5.1 "BBS-arRP-F026-B" in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615982.5.1Saudi ArabiaObesity; Rod-cone dystrophy; Polydactyly; Round faceMaleYesYes"BBS-arRP-F026-A" in the publication
615982.5.3Saudi ArabiaObesity; Rod-cone dystrophy; Polydactyly; Round faceMaleYesYesSibling of 615982.5.1 "BBS-arRP-F026-C" in the publication
615982.5.4Saudi ArabiaObesity; Rod-cone dystrophy; Polydactyly; Round faceMaleYesYesSibling of 615982.5.1 "BBS-arRP-F026-D" in the publication
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