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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD27 Syndromes with skin or mucosal anomalies as a major feature
H03097 Shaheen syndrome
