615434.1.1

Country

Morocco

HPO Terms

Rod-cone dystrophy ; Best corrected visual acuity 1.0 LogMAR
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_012106.3:c.207+1G>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615434.1.2MoroccoRod-cone dystrophy ; Best corrected visual acuity 0.1 LogMARFemaleYesYesSibling of 615434.1.1
615434.1.3MoroccoFemaleYesYesUnaffected sibling of 615434.1.1
615434.1.4MoroccoMaleYesUnaffected father of 615434.1.1
615434.1.5MoroccoFemaleYesUnaffected mother of 615434.1.1
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