615458.1

Country

United Arab Emirates

HPO Terms

Microcornea; Chorioretinal atrophy; Nystagmus; Rod-cone dystrophy; Telecanthus; Low-set ears
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_199355.4:c.1559A>G2

Remarks

This patients has a similarly affected older sister

References

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