This website provides information on patients with mutations in the CTNNB1 gene, including clinical data, molecular data, management and research options.

The CTNNB1 syndrome is a multisystem disorder characterized by a variable degree of cognitive impairment, microcephaly, truncal hypotonia, peripheral spasticity, visual problems, dysmorphic features and behavioural problems.

Not all individuals with a mutation in the CTNNB1 gene have these features.

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 mutations in the CTNNB1 gene.

Brian Hon Yin Chung, MD, Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Genome Institute, Hong Kong Special Administrative Region, China, bhychung@hku.hk

Ivan Fai-man Lo, MD, Clinical Genetic Service, Department of Health, Hong Kong, China, con_cg@dh.gov.hk

Stephanie Ho, MD, Clinical Genetic Service, Department of Health, Hong Kong, China, stephanie_kl_ho@dh.gov.hk

Mandy Tsang, MMedSc, Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, China, mandyhytsang@gmail.com

Ho-ming Luk, MD, Clinical Genetics Service Unit, Hong Kong Children’s Hospital, Hospital Authority, Hong Kong, China, lukhm@ha.org.hk