We are collecting a large cohort of affected individuals harbouring biallelic pathogenic variants in the PRMT7 gene. Our aim is to provide a thorough genotypic and phenotypic characterization of the PRMT7-related syndrome, in order to expand our knowledge on this disorder and identify further possible clues for clinical and radiological diagnosis. We will investigate the relevance of the dysmorphic features in the diagnostic process through specific facial recognition software’s and the possible impact of selected medical treatments on some aspects of the disorder. We will be glad to accept all PRMT7-related cases that interested clinicians will provide to enhance the power of the project.
PRMT7