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It is characterized by intractable watery DIARRHEA during infancy. The early onset form manisfests in the neonatal period and late-onset appears within the first 3 or 4 months of life. Definite diagnosis is made by TRANSMISSION ELECTRON MICROSCOPY, where shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature ENTEROCYTES and peripheral accumulation of PAS REACTION - positive granules or vesicles in immature ENTEROCYTES is observed. Mutations in the MYO5B gene have been identified. 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