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Mietens syndrome

Disease definition

Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.

ORPHA:2557

Classification level: Disorder
  • Synonym(s):
    • Intellectual disability, Mietens-Weber type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 249600
  • UMLS: C0265249
  • MeSH: -
  • GARD: 3524
  • MedDRA: -
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