This website provides information on patients with mutations in the ADGRB3 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ADGRB3 gene is a multisystem disorder characterized by mild developmental delay in early childhood, delayed walking with unstable gait, tremor, speech delay and strabismus. In the teenage years, main features are cerebellar ataxia, intellectual disability, memory difficulties, and affective emotional issues, such as anxiety and mood instability. Comorbid seizures in childhood may lead to a more severe phenotype, including prominent psychiatric symptoms, such as inappropriate laughing, social closure, and hallucinations, and severe intellectual disability. Additional features are dysarthria or scanning speech, nystagmus, postural and intention tremor, dysmetria, dysdiadochokinesia, ataxic gait, poor coordination, mild muscle weakness with hyperreflexia, scapular winging, lumbar hyperlordosis, dorsal hyperkyphosis, and flat feet.
Not all individuals with a mutation in the ADGRB3 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 ADGRB3 gene.
Marco Fichera, PhD, University of Catania, Catania, Italy, firstname.lastname@example.org
Corrado Romano, MD, Oasi Research Institute-IRCCS, Troina, Italy, email@example.com