CNOT2 haploinsufficiency is the genetic basis for a developmental disorder referred to as Intellectual Developmental disorder with Nasal speech, Dysmorphic Facies, and variable Skeletal anomalies in the database OMIM. The prevalence of this disorder is currently unknown; however, only a limited number of cases have been reported thus far and it appears to be very rare. Causative variants disrupting the CNOT2 gene typically occur in a de novo manner.
CNOT2