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216550.8
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Subject Details
Country
United Arab Emirates
HPO Terms
Global developmental delay; Intellectual disability
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_152564.4:c.7365del
2
Cohen Syndrome
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References
Saleh et al. 2021
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