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Ring chromosome 10 syndrome

Disease definition

An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.

ORPHA:1438

Classification level: Disorder
  • Synonym(s):
    • Ring 10
    • Ring chromosome 10
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q93.2
  • OMIM: -
  • UMLS: C0265438  C2931727
  • MeSH: C538086
  • GARD: 1322
  • MedDRA: -
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