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616116.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Seizure; Global developmental delay; Chorioretinal degeneration
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001543.5:c.985C>T
2
Intellectual Developmental Disorder, Autosomal Recessive 46
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References
Monies et al. 2017
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