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616420.3
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Subject Details
Country
Morocco
HPO Terms
Profound global developmental delay; Progressive microcephaly; Agenesis of corpus callosum; Cerebral hypomyelination; Hypotonia
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Sex
Male
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_013328.4:c.796C>T
2
Leukodystrophy, Hypomyelinating, 10
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References
Meng et al. 2017
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