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Septo-optic dysplasia spectrum

Disease definition

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.

ORPHA:3157

  • Synonym(s):
    • De Morsier syndrome
    • SOD
    • Septo-optic dysplasia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or Multigenic/multifactorial or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.8
  • OMIM: 182230
  • UMLS: C0162809  C0338503
  • MeSH: D025962
  • GARD: 7627
  • MedDRA: 10067159

Detailed information

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Additional information

Further information on this disease

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