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High myopia-sensorineural deafness syndrome

Disease definition

High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.

ORPHA:363396

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: H90.5
  • OMIM: 221200
  • UMLS: -
  • MeSH: -
  • GARD: 12844
  • MedDRA: -

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