608133.1.1

Country

United Arab Emirates

HPO Terms

Pendular nystagmus; Moderately reduced visual acuity; Rod-cone dystrophy; Irregular central macular autofluorescence
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000322.4:c.659G>A2
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