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A rare genetic neurocutaneous syndrome with characteristics of the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular poly cyclically-shaped, epidermal keratotic papules and plaques of \'\'gem-like\'\' appearance with a rough surface, typically located on the trunk and proximal limbs. Associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and ophthalmological abnormalities have also been reported.
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