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Cohen syndrome

What is Cohen syndrome?

A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: Unknown

Age of Onset

  • Antenatal
  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.