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Ectopia lentis-chorioretinal dystrophy-myopia syndrome

Disease definition

A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients.


Classification level: Disorder
  • Synonym(s):
    • Noble-Bass-Sherman syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q15.8
  • OMIM: -
  • UMLS: C2931115
  • MeSH: -
  • GARD: 3999
  • MedDRA: -
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