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Definition

An autosomal recessive, complex and progressive neurologic disorder characterized by severe neurodevelopmental delay and developmental regression, epileptic encephalopathy, postnatal microcephaly, hypotonia, and non-epileptic hyperkinetic movement disorder, including myoclonus dystonia, choreoathetosis, or generalized dyskinesia. Disease onset in infancy or first years of life.

Acronym

NEDNEH

Synonyms

Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements

Keywords

Epilepsy
Mental retardation

 
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