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221820.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Microcephaly; Seizure
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001288705.3:c.2512G>A
1
Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1
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References
Monies et al. 2017
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