This website provides information on patients with a likely pathogenic variant in the CLTC gene, including clinical data, molecular data, management and research options.
Autosomal dominant mental retardation-56 (MRD56; MIM#617854), caused by a likely pathogenic variant in the CLTC gene, is a multisystem disorder characterized by a variable degree of developmental delay / intellectual disability, ranging from mild to severe. Microcephaly, hypoplasia of the corpus callosum and epilepsy may also be observed, but do not occur in all individuals with a likely pathogenic variant in the CLTC gene.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with a variant in the CLTC gene.
David A. Koolen, MD, PhD, Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands, David.Koolen@radboudumc.nl