📂 Diseases
COG2-CDG — Definition
COG2-CDG / COG2-CDG
COG2-CDG is a rare genetic disease in the group of congenital glycoside disorders. This disease occurs due to mutations in the COG2 gene, the result of the fact that glicoproteins in the cells are not properly processed. Clinical findings include development retardation, neurological problems, liver dysfunction and dysmorphic facial properties. The disease shows autozomal resessive inheritance and is verified by genetic tests diagnosed.
Frequently Asked Questions
❓ What is COG2-CDG?
COG2-CDG; cOG2-CDG is a rare genetic disease in the group of congenital glycoside disorders. This disease occurs due to mutations in the COG2 gene, the result of the fact that glicoproteins in the cells are not properly processed. Clinical findings include development retardation, neurological problems, liver dysfunction and dysmorphic facial properties. The disease shows autozomal resessive inheritance and is verified by genetic tests diagnosed.
❓ What is COG2-CDG in Turkish?
The Turkish equivalent of "COG2-CDG" is COG2-CDG.
❓ Which medical field is COG2-CDG related to?
This term belongs to the Diseases category.