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"Biallelic mutations in the ovarian tumor domain-containing 6B (OTUD6B) gene, coding for a deubiquitinating enzyme, were recently described to cause an intellectual disability syndrome characterized by seizures and dysmorphic features in six families worldwide."

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"Biallelic mutations in the OTUD6B (Ovarian tumor domain-containing 6B) gene were recently described to cause an intellectual disability syndrome characterized by seizures and dysmorphic features in six families worldwide (Santiago-Sim et al., 2017; Online Mendelian Inheritance in Men, OMIM, #617452)."