RAB11A

Clinical Characteristics

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 ¼ 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.