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Ring chromosome 17 syndrome

Disease definition

Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.

ORPHA:1441

  • Synonym(s):
    • Ring 17
    • Ring chromosome 17
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Childhood
  • ICD-10: Q93.2
  • OMIM: -
  • UMLS: C2931714
  • MeSH: C538046
  • GARD: 4724
  • MedDRA: -

Additional information

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