Intellectual disability-epilepsy-extrapyramidal syndrome

Orpha code: 468620OMIM code: 617171

Definicja

A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.

Disease data
Klasyfikacja

Disease

Kod ORPHA
468620
Kod OMIM
617171
Kod ICD10
F78.8
Kod ICD11
-

No additional description.

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