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203800.1
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Subject Details
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 Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001378454.1(ALMS1):c.11873-2A>T
2
Alstrom Syndrome
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References
Khan. 2020
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