204000.15.2

Country

Saudi Arabia

HPO Terms

Visual impairment
Back to search Result
Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000180.4:c.1978C>T2
NM_000180.4:c.2345T>A2

Remarks

Brother of 204000.15.1

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
204000.15.1Saudi ArabiaVisual impairment; Undetectable electroretinogram; Pendular nystagmus; Slow pupillary light response; Exotropia; Attenuation of retinal blood vesselsFemaleYesYes
204000.15.3Saudi ArabiaVisual impairment; Undetectable electroretinogram; Abnormality of retinal pigmentationMaleYesYesBrother of 204000.15.1
Back to search Result
© CAGS 2024. All rights reserved.