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117550.1
Home
Subject Details
Country
Lebanon
HPO Terms
Hyperactivity; Short neck; Growth delay; Global developmental delay
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Sex
Unknown
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_022455.5:c.2339C>T
1
Sotos Syndrome 1
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References
Jalkh et al. 2019
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