615987.4

Country

Saudi Arabia

HPO Terms

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

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024685.4:c.1365T>G2
NM_176824.3:c.934+32A>G1

Remarks

"BBS-F011-A" in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615987.5Saudi ArabiaObesity; Intellectual disability; Rod-cone dystrophy; Polydactyly; Round face; External genital hypoplasiaMaleNoYes"BBS-F023-A" in the publication
615987.8Saudi ArabiaRetinal dystrophyUnknownNo
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