Orphanet: Ring chromosome 11 syndrome
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Ring chromosome 11 syndrome

Disease definition

Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.

ORPHA:96175

Classification level: Disorder
  • Synonym(s):
    • RC11
    • Ring 11
    • Ring chromosome 11
    • r(11) syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q93.2
  • OMIM: -
  • UMLS: C0265444
  • MeSH: -
  • GARD: 10846
  • MedDRA: -
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