Rare genetically inherited neurodevelopmental disorders remain a huge diagnostic and therapeutic challenge in clinical medicine. Redenlab pediatric consultant Prof Angela...
Published in the European Journal of Human Genetics we expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%) being the most common diagnosis.