Towards Characterizing the Developmental and Behavioral Profiles of ODLURO Syndrome: Shared Features With Wiedemann-Steiner Syndrome and Kabuki Syndrome.

Abstract excerpt

O'Donnell-Luria-Rodan syndrome (ODLURO) is a rare disorder caused by a pathogenic variant in KMT2E and associated with intellectual disability. To date, the neurobehavioral phenotype of this disorder remains elusive. Here, we aimed to characterize the cognitive and behavioral profiles associated with ODLURO and compare the trends with those of other disorders associated with epigenetic regulation of gene...

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