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256731.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Intellectual disability; Brain atrophy; Seizure; Specific learning disability
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006493.4:c.448C>T
2
Ceroid Lipofuscinosis, Neuronal, 5
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References
Monies et al. 2017
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