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310600.1
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Seizure; Global developmental delay; Failure to thrive; Motor delay; Delayed speech and language development; Intellectual disability
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000266.4:c.343C>G
1
Norrie Disease
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References
Monies et al. 2019
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