This website provides information on patients with mutations in the RUSC2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the RUSC2 gene is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, acquired microcephaly and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum.
Not all individuals with a mutation in the RUSC2 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 RUSC2 gene.
Ali Hassan Alwadei, MD, FRCPC, CSCN (EEG), Consultant Pediatric Neurologist and Epileptologist, Pediatric neurology department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia, firstname.lastname@example.org / email@example.com