613826.5

Country

Saudi Arabia

HPO Terms

Reduced visual acuity; Global developmental delay; Nystagmus
Back to search Result
Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020366.3:c.1107del2
© CAGS 2024. All rights reserved.