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

Orpha code: 457212OMIM code: 616269

Definition

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.

Disease data
Classification

Disease

ORPHA code
457212
OMIM code
616269
ICD10 code
F78.1
ICD11 code
-

No additional description.

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