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616420.2
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Developmental regression; Generalized hypotonia; Failure to thrive; Microcephaly; Delayed myelination;
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Sex
Unknown
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
Al-Shamsi et al. 2016
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