Orphanet: Knobloch syndrome

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Knobloch syndrome

Disease definition

A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.


Classification level: Disorder
  • Synonym(s):
    • Knobloch-Layer syndrome
    • Retinal detachment-occipital encephalocele syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q15.8
  • OMIM: 267750
  • UMLS: C1849409
  • MeSH: C537209
  • GARD: 380
  • MedDRA: -
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