Extended Data Table 1 Genotype and phenotype of affected individuals with Catel-Manzke syndrome

From: A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia

  1. The following clinical features were not detected in the present cohort: additional hyperphalangy, talipes, pectus deformity, laryngomalacia, highly arched palate/bifid uvula, widely spaced eyes, other organ malformations. L, left; r, right; NA, not applicable; ND, not determined; ADD, attention deficit disorder; ASD, atrial septal defect; VSD, ventricular septal defect; PS, pulmonal stenosis; IUGR, intrauterine growth retardation; CPAP, continuous positive airway pressure; SD, standard deviation; +, present; -, absent. Reference 75.
Back to article page