コーエン症候群

Also known as COHEN SYNDROME, 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