217080.1.4

Country

Lebanon
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020184.3:c.707G>A1NA

Remarks

Mother of 217080.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
217080.1.1LebanonPendular nystagmus; Photophobia; Nyctalopia; Visual impairment; Amelogenesis ImperfectaFemaleYesYesProband from 'Family B' in the publication
217080.1.2LebanonPendular nystagmus; Photophobia; Nyctalopia; Visual impairment; Amelogenesis ImperfectaFemaleYesYesSister of 217080.1.1
217080.1.3LebanonMaleNoYesFather of 217080.1.1
217080.1.5LebanonPendular nystagmus; Photophobia; Nyctalopia; Visual impairment; Amelogenesis ImperfectaMaleYesYesMaternal cousin of 217080.1.1
217080.1.6LebanonMaleNoYesMaternal uncle of 217080.1.1, father of 217080.1.5
217080.1.7LebanonFemaleNoYesMaternal aunt of 217080.1.1, mother of 217080.1.5
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