“…reported in seven patients with VRJS, four of whom are female, a prevalence far above the population rate of 1 in 40 to 1 in 400 individuals and in which there is a known and significant male preponderance (Biavati et al, 2020;El Chehadeh et al, 2017;Isidor & David, 2015;Low et al, 2017) In combining our detailed phenotypic data with the previously reported, and variably phenotyped patients, we further refine the known frequencies of features associated with VRJS (Table 3). These include neurodevelopmental delay/intellectual disability (98%), axial skeletal anomalies (74%), appendicular skeletal anomalies (73%), oral anomalies (68%), short stature (66%), cardiac anomalies (63%), brain malformations (48%), hearing loss (46%), microcephaly (41%), colobomata (38%), and other ocular anomalies (65%) (Alkhunaizi & Braverman, 2019;Dauber et al, 2013;Deciphering Developmental Disorders, 2017;El Chehadeh et al, 2017;Fromer et al, 2014;Graziano et al, 2017;Haug et al, 2021;Isidor & David, 2015;Jourdain et al, 2020;Kernohan et al, 2018;Latypova et al, 2021;Low et al, 2017;Moccia et al, 2018;Santos-Simarro et al, 2017;Q. Xu et al, 2018;Yamada et al, 2020;Zanolli et al, 2020;Zhao et al, 2018).…”