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Rare Disease Database

2 Search Results for: COH1

NORD Rare Disease Database

Cohen Syndrome

Cohen syndrome is a fairly variable genetic disorder characterized by diminished muscle tone (hypotonia), abnormalities of the head, face, hands and feet, eye...

Also known as: Pepper Syndrome

NIH GARD Information

Cohen syndrome

Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was...