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Oculocerebrocutaneous syndrome

Disease definition

A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.

ORPHA:1647

Classification level: Disorder
  • Synonym(s):
    • Delleman syndrome
    • Delleman-Oorthuys syndrome
    • Leichtman-Wood-Rohn syndrome
    • OCCS
    • Orbital cyst with cerebral and focal dermal malformations
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 164180
  • UMLS: C0796092  C2931390
  • MeSH: C538088
  • GARD: 106
  • MedDRA: -
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