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Ring chromosome 22 syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Ring Chromosome 22 Syndrome
SNOMED CT: Ring chromosome 22 syndrome (13555004)


An autosomal anomaly with characteristics of 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRing chromosome 22 syndrome

Professional guidelines


Koza SA, Tabet AC, Bonaglia MC, Andres S, Anderlid BM, Aten E, Stiefsohn D; European Phelan-McDermid syndrome consortium, Evans DG, van Ravenswaaij-Arts CMA, Kant SG
Eur J Med Genet 2023 Jul;66(7):104773. Epub 2023 Apr 28 doi: 10.1016/j.ejmg.2023.104773. PMID: 37120077
Vigneswaran TV, Allan L, Charakida M, Durward A, Simpson JM, Nicolaides KH, Zidere V
Prenat Diagn 2018 Dec;38(13):1055-1061. doi: 10.1002/pd.5388. PMID: 30421794
Sutter R, Kaplan PW
Epilepsia 2012 Aug;53 Suppl 3:1-51. doi: 10.1111/j.1528-1167.2012.03593.x. PMID: 22862158

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