COG7 congenital disorder of glycosylation
Your Results
Sign InDescription
CDG IIe is caused by a mutation that impairs the integrity of the conserved oligomeric Golgi (COG) complex and alters Golgi trafficking, resulting in the disruption of multiple glycosylation pathways. For a general discussion of CDGs, see CDG1A (212065).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
103