615982.2.2

Country

Saudi Arabia

HPO Terms

Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasia
Back to search Result
Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_033028.4:c.157-2A>G2

Remarks

Sibling of 615982.2.1 "BBS-F005-B" in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615982.2.1Saudi ArabiaObesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; Bicuspid aortic valve; External genital hypoplasiaMaleYesYes"BBS-F005-A" in the publication
Back to search Result
© CAGS 2024. All rights reserved.