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COFS syndrome

Disease definition

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.

ORPHA:1466

  • Synonym(s):
    • Cerebrooculofacioskeletal syndrome
    • Pena-Shokeir syndrome type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.1
  • OMIM: 214150  278780  610756  610758  616570
  • UMLS: C0220722  C1859312  C2931277
  • MeSH: -
  • GARD: 6027
  • MedDRA: -

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