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601097.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Global developmental delay; Seizure
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000304.4:c.277G>C
1
NM_012309.5:c.2411G>A
1
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Remarks
Patient has heterozygous variants in PMP22 gene and SHANK2 gene
References
Monies et al. 2017
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