613862.1.1

Country

Arab

HPO Terms

Visual impairment; Rod-cone dystrophy; Optic disc pallor; Attenuation of retinal blood vessels; Macular atrophy;
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
MERTK, 9-KB DEL2

Remarks

Proband

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613862.1.2ArabVisual impairment; Rod-cone dystrophy; Dyschromatopsia; Best corrected visual acuity 0.3 LogMARMaleYesYesBrother of 613862.1.1
613862.1.3ArabMaleYesFather of 613862.1.1
613862.1.4ArabFemaleYesMother of 613862.1.1
613862.1.5ArabMaleYesYesBrother of 613862.1.1
613862.1.6ArabFemaleYesYesSister of 613862.1.1
613862.1.7ArabMaleYesYesBrother of 613862.1.1
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