Today is Genetic Counselor Awareness Day - SNPedia & Promethease thank them for all they do!

Need A Counselor? Use our Find A Genetic Counselor form.

Cohen Syndrome

From SNPedia

Cohen Syndrome describes a rare autosomal recessive disorder characterized by obesity, mental retardation and craniofacial dysmorphism, psychomotor retardation and childhood hypotonia among other symptoms. Wikipedia

The disorder is primarily caused by mutations in the VPS13B gene on chromosome 8q22. SNPs associated with Cohen Syndrome include: