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. 2020 May 15;48(3):1199–1211. doi: 10.1042/BST20200109

Table 1. Summary of genes surveyed in the review showing their associated developmental disorder, inheritance and variant types.

Gene Associated neurodevelopmental disorder (OMIM number) Inheritance Variant types Ref
DCPS Intellectual disability, Al-Raqad type (616459) AR splice and missense [25,27]
EDC3 Intellectual disability, non-syndromic (616460) AR missense [25]
DDX6 Intellectual disability, syndromic (618653) AD missense [61]
DDX3X Intellectual disability, syndromic (300958) XL-D missense or truncating [83]
DHX30 Intellectual disability, syndromic (617804) AD missense [91]
DDX59 Intellectual disability, Orofaciodigital syndrome Type V (174300) AR missense [93]
DHX16 Intellectual disability, syndromic (618733) AD missense [94]
DHX34 Intellectual disability, syndromic (not assigned) AR and AD missense or truncating [94]
DHX37 Intellectual disability, syndromic (618731) AR and AD missense [94]
DDX54 Intellectual disability, syndromic (not assigned) AR missense [94]
CNOT1 Holoprosencephaly (618500) AD one recurrent missense [95,96]
  Intellectual disability (not assigned) AD missense or truncating [98]
CNOT2 Intellectual disability, syndromic (618608) AD intragenic deletions or truncating [97]
CNOT3 Intellectual disability, syndromic (618672) AD missense or truncating [99]