Article
Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
Clinical genetics - 1 Oct 2020
Meyer Robert, Begemann Matthias, Demuth Stephanie, Kraft Florian, Dey Daniela, Schüler Herdit, Busse Sabine, Häusler Martin, Zerres Klaus, Kurth Ingo, Eggermann Thomas, Elbracht Miriam
Abstract excerpt
De novo pathogenic variants in CNOT3 have recently been reported in a developmental delay disorder (intellectual developmental disorder with speech delay, autism, and dysmorphic facies [IDDSADF, OMIM: #618672]). The patients present with a variable degree of developmental delay and behavioral problems. To date, all reported disease-causing variants occurred de novo and no parent-child transmission was observed....
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