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611544.2
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Pulverulent cataract; Reduced visual acuity
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001887.4:c.171del
2
Cataract 17, Multiple Types
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Remarks
Cataract surgery done at 6 years of age did not improve visual acuity
References
Khan et al. 2015;
Khan et al. 2012;
Patel et al. 2017
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
611544.4
Saudi Arabia
Pulverulent cataract; Reduced visual acuity; Esotropia
Male
No
No
611544.5
Saudi Arabia
Pulverulent cataract; Reduced visual acuity; Exotropia
Male
No
Yes
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