209900.6.2

Country

Saudi Arabia

HPO Terms

Obesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Abnormality of the kidney; 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_024649.5:c.951+58C>T2

Remarks

Sibling of 209900.6.1 "BBS-F014-A" in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
209900.6.1Saudi ArabiaObesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Hearing impairment; Round face; External genital hypoplasiaMaleYesYes"BBS-F014-A" in the publication
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