Details of novel rare USP7-associated neurodevelopmental disorder

Novel rare neurodevelopmental disorder manifests itself by speech delay, intellectual disability, dysmorphic facial features, abnormal MRI, hypotonia – and it’s caused by various mutations of USP7 gene.

More: Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies, M. D. Fountain et al., published 25th January 2019, doi:10.1038/s41436-019-0433-1