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613454.1
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Developmental regression; Generalized hypotonia; Failure to thrive
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_005249.5:c.1397G>A
1
Rett Syndrome, Congenital Variant
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References
Al-Shamsi et al. 2016
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