O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

The O’Donnell-Luria-Rodan syndrome (ODLURO) is a disorder primarily affecting cognitive development and behavior. Patients often show delayed development, mild to moderate intellectual disability, a large head circumference and autism spectrum disorder. After it was first described in 2019, we now report the second systematic case series of 18 patients with ODLURO, leading to a better understanding of the severity and frequency of its clinical symptoms. This will hopefully lead to the disorder being more easily recognized in other affected individuals. A new finding in our study is that many patients with ODLURO seem to have sleep disturbances. With more than 60 ODLURO patients now reported, this disorder seems to among the more common single-gene causes of neurodevelopmental delay and should be routinely tested for in patients with developmental delay, intellectual disability or autism spectrum disorder. (By Dr. med. Florian Erger, https://jmg.bmj.com/content/early/2021/07/28/jmedgenet-2020-107470)

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