217080.1.1

Country

Lebanon

HPO Terms

Pendular nystagmus; Photophobia; Nyctalopia; Visual impairment; Amelogenesis Imperfecta
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020184.3:c.707G>A2NA

Remarks

Proband from 'Family B' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
217080.1.2LebanonPendular nystagmus; Photophobia; Nyctalopia; Visual impairment; Amelogenesis ImperfectaFemaleYesYesSister of 217080.1.1
217080.1.3LebanonMaleNoYesFather of 217080.1.1
217080.1.4LebanonFemaleNoYesMother 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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