Missense variants in RAB11A are associated with neurodevelopmental impairment, gait disturbance and other motor phenotypes, dysmorphology and potential multi-systemic findings, including visual problems, early adrenarche, gastrointestinal problems and cardiac problems. Additional findings could include autistic behaviour, microcephaly and epilepsy. As of date, only 16 individuals have been reported in the literature, suggesting that this genetic disorder is extremely rare. One individual had a homozygous nonsense variant, although concomitant with a pathogenic LAMA2 variant, which made their respective contributions to the phenotype difficult to discriminate.
RAB11A