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Cohen syndrome

MONDO:0008999

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Also known as: Cohen syndrome, cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness, COH1, Chs1, Chs1, formerly, Coh, hypotonia, obesity, and prominent incisors, pepper syndrome

1 clinical trial for this condition and its sub-types, 1 tagged with Cohen syndrome itself.

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