Orphanet: Mohr Tranebjaerg syndrome

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Mohr-Tranebjaerg syndrome

Disease definition

An X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.


Classification level: Disorder
  • Synonym(s):
    • DDON syndrome
    • Deafness-dystonia-optic neuronopathy syndrome
    • Hearing loss-dystonia-optic neuronopathy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: E88.8
  • OMIM: 304700
  • UMLS: C0796074
  • MeSH: C535808
  • GARD: 8331
  • MedDRA: -

Detailed information


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