Also known as 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, Pitt Hopkins syndrome
via PubMed
rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea
via Wikidata · CC0
via Wikidata sitelinks · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).