615984.2.1

Country

Saudi Arabia

HPO Terms

Obesity; Intellectual disability; Abnormality of the kidney; 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_176824.3:c.602-2A>T2

Remarks

"BBS-F012-A" in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615984.2.2Saudi ArabiaObesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round faceFemaleYesYesSibling of 615984.2.1 "BBS-F012-B" in the publication
615984.2.3Saudi ArabiaObesity; Intellectual disability; Abnormality of the kidney; Rod-cone dystrophy; Polydactyly; Round faceFemaleYesYesSibling of 615984.2.1 "BBS-F012-C" in the publication
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