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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.

ORPHA:1884

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: -

Additional information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.