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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.