209900.2.3

Country

Saudi Arabia

HPO Terms

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

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024649.5:c.124+1G>A2

Remarks

Sibling of 209900.2.1 "BBS-F002-C" in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
209900.2.1Saudi ArabiaObesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round faceFemaleYesYes"BBS-F002-A" in the publication
209900.2.2Saudi ArabiaObesity; Intellectual disability; Rod-cone dystrophy; Round faceFemaleYesYesSibling of 209900.2.1 "BBS-F002-B" in the publication
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