Angelman syndrome

Summary
Synonym
  • happy puppet syndrome
  • puppetlike syndrome
Definition
A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
Super Class
syndrome
Disease Ontology
DOID:1932
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
6047 RNF4 ring finger protein 4
7337 UBE3A ubiquitin protein ligase E3A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024