617781.11

Country

Saudi Arabia

HPO Terms

Visual impairment; Nystagmus
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_014714.4:c.1541_1542delinsAA2

Remarks

The patient had 3 sisters and a nephew that were similarly affected.
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