bn:01881431n
Noun Concept
Categories: Transcription factor deficiencies, Rare diseases, Syndromes affecting the eye, Syndromes affecting the nervous system, Disorders causing seizures
EN
Pitt-Hopkins syndrome  Pitt–Hopkins syndrome  Encephalopathy, Severe Epileptic, With Autonomic Dysfunction  Intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea  Mental Retardation, Syndromal, With Intermittent Hyperventilation
EN
Pitt–Hopkins syndrome is a rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea. Wikipedia
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