Cohen syndrome
Also known as Pepper Syndrome, COH1, Chs1, Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness, COHEN SYNDROME; COH1, Coh, Chs1, Formerly
a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity
Research
265 papers- Cohen Syndrome.1993
- Cohen Syndrome: Review of the Literature.Cureus · 2018
- Exploring the pathological mechanisms underlying Cohen syndrome.Frontiers in neuroscience · 2024
- Syndromic retinitis pigmentosa.Progress in retinal and eye research · 2025
- Cohen syndrome: essential features, natural history, and heterogeneity.American journal of medical genetics · 2001
via PubMed