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Ring chromosome 22 syndrome

Disease definition

Ring chromosome 22 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.


  • Synonym(s):
    • Ring 22
    • Ring chromosome 22
    • r(22) syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q93.2
  • OMIM: -
  • UMLS: C0265492  C2931325
  • MeSH: C536795
  • GARD: 1336
  • MedDRA: -

Detailed information

Article for general public

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