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PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, profound intellectual disability, poor or absent speech, and seizures. In general, prognosis is poor, with severe to profound global psychomotor developmental delay and refractory epilepsy. Some patients evolve with respiratory failure and early death.

Presentation is typically in the first year of life with severe developmental delay or regression and epilepsy, with progressive cerebral atrophy.