Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

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Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

A rare genetic syndromic intellectual disability characterized by global developmental delay moderate to severe intellectual disability motor and language impairment behavioral abnormalities (with mood instability aggression and self-mutilation) and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures large ears long philtrum and prominent chin.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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