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248800.4
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Juvenile cataract
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Sex
Unknown
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_022464.5:c.1030-9G>A
2
Marinesco-Sjogren Syndrome
Download Table
References
Patel et al. 2017
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
248800.1
Saudi Arabia
Intellectual disability; Cerebellar vermis hypoplasia; Molar tooth sign on MRI; Global developmental delay
Unknown
No
248800.5
Saudi Arabia
Juvenile cataract
Unknown
No
Back to search Result
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