Cohen syndrome

Cohen syndrome is an autosomal recessive disorder with a broad phenotypic spectrum. Essential symptoms include mental retardation, progressive postnatal microcephaly, typical facial anomalies, ophthalmologic findings such as chorioretinal dystrophy and myopia, and granulocytopenia. Obesity and growth delay could be observed. In most patients, Cohen syndrome is caused by loss-of-function mutations in the COH1 gene.