A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay.
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pervasive developmental disorder
MONDO:0000594
Prader-Willi syndrome
MONDO:0008300
intellectual disability, autosomal dominant 29
MONDO:0014482
neurodevelopmental disorder with language impairment and behavioral abnormalities
MONDO:0030060
neurodevelopmental disorder with severe motor impairment and absent language
MONDO:0060622
X-linked complex neurodevelopmental disorder
MONDO:0100148