Abstract
TBCK or TBCK-related encephalopathy is a rare genetic disorder characterized by profound intellectual disability, severe infantile hypotonia, slow motor delay, facial dysmorphism. In most of the reported cases post-natal onset of progressive brain atrophy and white matter changes on MRI have been reported. TBCK protein is putative Rab GTPase activating protein with possible role in epidermal growth factor signaling, endocytosis, and cell migration.
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