This website provides information on patients with mutations in the ADARB1 gene, including clinical data, molecular data, management and research options.

Mutations in the ADARB1 gene cause a neurological disorder characterised by:
●    Microcephaly
●    Severe to profound developmental delay
●    Intellectual disability
●    Hypotonia
●    Epilepsy

Not all individuals with a mutation in the ADARB1 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 ADARB1 gene.

Tiong Yang Tan, MBBS, FRACP, PhD, Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Department of Paediatrics, University of Melbourne, Australia,

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