216900.1.2

Country

United Arab Emirates

HPO Terms

Reduced visual acuity; Photophobia; Nystagmus; Achromatopsia
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001298.3:c.847C>T 1
NM_001298.3:c.1190G>T1

Remarks

Brother of 216900.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
216900.1.1United Arab EmiratesReduced visual acuity; Photophobia; Nystagmus; AchromatopsiaFemaleYesNo
216900.1.3United Arab EmiratesReduced visual acuity; Photophobia; Nystagmus; AchromatopsiaFemaleYesYesFirst cousin, once removed, of 216900.1.1
216900.1.4United Arab EmiratesReduced visual acuity; Photophobia; Nystagmus; AchromatopsiaMaleYesYesFirst cousin, once removed, of 216900.1.1
216900.1.5United Arab EmiratesReduced visual acuity; Photophobia; Nystagmus; AchromatopsiaFemaleYesYesFirst cousin, once removed, of 216900.1.1
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