title: Clinical utility gene card for: Phosphomannomutase 2 deficiency.
authors.affiliation: Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.affiliation: Department of Neurology, Laboratory of Genetic, Endocrine and Metabolic Disease, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Dirk
authors.initials: D
authors.lastname: Lefeber
authors.affiliation: Centre for Human Genetics, KU Leuven, Leuven, Belgium.
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D003937:Diagnosis, Differential; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D015994:Incidence; D009154:Mutation; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency* / Q000235:genetics; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human