610356.G.2

Country

United Arab Emirates

HPO Terms

Cone dystrophy
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Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_133497.4:c.427G>T
NM_133497.4:c.564G>C

Remarks

Unknown number of members from an Emirati family. (Designated as Family 9 in the publication)

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
610356.G.1United Arab EmiratesCone/cone-rod dystrophy; Reduced visual acuity; Color vision defectGroup of 7 patients diagnosed either at birth or infancy
610356.G.3United Arab EmiratesBlurred vision; Nyctalopia; Retinal dystrophy; Abnormal macular morphology; Abnormal electroretinogramYesGroup of 14 patients from 9 families
610356.G.4United Arab EmiratesRod-cone dystrophyUnknownYesFamily with unknown number of affected members
610356.G.5United Arab EmiratesCone/cone-rod dystrophyUnknownNoFamily with unknown number of affected members
610356.G.6United Arab EmiratesCone/cone-rod dystrophyUnknownNoFamily with unknown number of affected members
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