204000.3.4

Country

Saudi Arabia

HPO Terms

Visual impairment; Nystagmus; Undetectable electroretinogram
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000260.4:c.578C>T2

Remarks

Relative of 204000.3.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
204000.3.1Saudi ArabiaVisual impairment; Nystagmus; Undetectable electroretinogramMaleYesYes
204000.3.2Saudi ArabiaVisual impairment; Nystagmus; Undetectable electroretinogramFemaleYesYesSister of 204000.3.1
204000.3.3Saudi ArabiaVisual impairment; Nystagmus; Undetectable electroretinogramMaleYesYesBrother of 204000.3.1
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