615987.5

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Country

Saudi Arabia

HPO Terms

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

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024685.4:c.1889_1893del2
NM_001165927.1:c.-17C>G1
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Remarks

"BBS-F023-A" in the publication

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615987.4Saudi ArabiaObesity; Rod-cone dystrophy; Polydactyly; Round faceFemaleNoYes"BBS-F011-A" in the publication
615987.8Saudi ArabiaRetinal dystrophyUnknownNo
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.