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Cohen syndrome (Pepper syndrome, Cervenka syndrome, Cervenka syndrome) - a syndrome of congenital abnormalities caused by a mutation in the COH1 gene at locus 8q22. The phenotype of the syndrome consists of obesity, mental retardation and dysmorphic facial features. Inheritance of the disease is autosomal recessive with variable penetration. Rare ocular complications such as optic nerve atrophy, microphthalmia, iris or retina, hemeralopia, myopia, ocular nystagmus. Dysmorphic features of the face include micrographs, short gutters and high vaulted palate.

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