The RAB11A-related disorder is characterized by intellectual disability, developmental delay, gait disturbance and/or other motor phenotypes (e.g.: hypotonia, ataxia, spasticity), dysmorphology, visual anomalies and potential early adrenarche. Additional findings could include autistic behaviour, microcephaly and epilepsy. The latter, seen in around ΒΌ of patients, seems associated with variants outside of the binding site domains, while variants affecting binding sites seem to be linked to a more multi-systemic phenotype, which could include gastrointestinal problems, cardiac problems and obesity. A majority of reported patients had MRI anomalies, especially concerning dimensions and the corpus callosum. Neurodegenerative phenotypes have also been reported in at least 3 patients.
RAB11A