| Disease ID | Source | Name | Description |
| 216550 | OMIM | Cohen syndrome (COH1) | A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline. The disease is caused by variants affecting the gene represented in this entry. |