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] |