CLINICAL CHARACTERISTICS: DDX11-related cohesinopathy is characterized by the clinical triad of severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia. Intellectual disability is typically in the mild-to-moderate range. Severe speech delay is common. Gross and fine motor milestones are often attained at the usual time, although a few individuals have mild motor delays. Additional common features include skeletal and cardiovascular anomalies….
