203800.1

Country

United Arab Emirates

HPO Terms

Photophobia; Nystagmus; Visual impairment; Rod-cone dystrophy; Obesity; Takotsubo cardiomyopathy
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001378454.1:c.11873-2A>T2

References

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