180100.8.1

  1. Home
  2. Subject Details

Country

Saudi Arabia

HPO Terms

Rod-cone dystrophy; Attenuation of retinal blood vessels; Optic disc pallor; Abnormality of retinal pigmentation; Macular atrophy
Back to search Result
Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006269.1:c.3428del2
Download Table

Remarks

Index patient

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
180100.8.2Saudi ArabiaRod-cone dystrophyMaleYesYesBrother of 180100.8.1
180100.8.3Saudi ArabiaRod-cone dystrophyMaleYesYesBrother of 180100.8.1
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.