Congenital Disorder of Glycosylation, Type Iih (CDG2H)

Alias:

Congenital Disorder of Glycosylation Type Iih

Cdg2h

Cdg Iih

Carbohydrate Deficient Glycoprotein Syndrome Type Iih

Congenital Disorder of Glycosylation Type 2h

Cdg-Iih

Cdgiih

Glycosylation, Congenital Disorder of, Type Iih

Cog8-Congenital Disorder of Glycosylation

Congenital Disorder of Glycosylation 2h

Cdg Syndrome Type Iih

Cog8-Cdg

Cdgiidh

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Iih, also known as congenital disorder of glycosylation type iih, is related to developmental and epileptic encephalopathy 36 and microcephaly. An important gene associated with Congenital Disorder of Glycosylation, Type Iih is COG8 (Component Of Oligomeric Golgi Complex 8), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Affiliated tissues include skeletal muscle and brain, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：CNG204

OMIM：611182

MESH：C566987