615987.4

  1. Home
  2. Subject Details

Country

Saudi Arabia

HPO Terms

Obesity; Rod-cone dystrophy; Polydactyly; Round face
Back to search Result
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
Download Table

Remarks

"BBS-F011-A" in the publication

References

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
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.