Shaheen syndrome (SHNS) is a rare syndrome characterized by severe intellectual disability, hypohidrosis, abnormal teeth, and acquired microcephaly. Mutations in COG6 in patients with SHNS have been identified. COG6 is a component of the conserved oligomeric Golgi (COG) complex that plays an important role in regulating transport in the Golgi apparatus, typically in the retrograde direction.
