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Cohen syndrome

Disease definition

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

ORPHA:193

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 216550
  • UMLS: C0265223
  • MeSH: C536438
  • GARD: 6126
  • MedDRA: 10049066

Detailed information

Professionals

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