604232.1.3

Country

Saudi Arabia

HPO Terms

Visual impairment; Abnormal visual fixation; Nystagmus; Hyperopic astigmatism; Undetectable electroretinogram
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_018418.5:c.322C>T2

Remarks

Sister of 604232.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
604232.1.1Saudi ArabiaVisual impairment; Abnormal visual fixation; Nystagmus; Hyperopic astigmatism; Undetectable electroretinogramMaleYesYes
604232.1.2Saudi ArabiaVisual impairment; Abnormal visual fixation; Nystagmus; Hyperopic astigmatism; Undetectable electroretinogramMaleYesYesBrother of 604232.1.1
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