Angelman syndrome (Q46847): Difference between revisions
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Revision as of 15:42, 13 August 2026
Angelman syndrome is a neurogenetic disorder characterised by severe intellectual deficit and distinct facial dysmorphic (microcephaly, macrostomia, maxillary hypoplasia, prognathia), behavioural (outbursts of laughter with hand flapping, a happy demeanour, hyperactivity without aggression, short attention span, excitability and sleeping problems with decreased need to sleep, increased sensitivity to heat, attraction to and fascination with water), and neurological features (a puppet-like gait, ataxia and epileptic seizures).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD90.0 |
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| English | Angelman syndrome |
Angelman syndrome is a neurogenetic disorder characterised by severe intellectual deficit and distinct facial dysmorphic (microcephaly, macrostomia, maxillary hypoplasia, prognathia), behavioural (outbursts of laughter with hand flapping, a happy demeanour, hyperactivity without aggression, short attention span, excitability and sleeping problems with decreased need to sleep, increased sensitivity to heat, attraction to and fascination with water), and neurological features (a puppet-like gait, ataxia and epileptic seizures). |
