Cytoscape Web
Click node...

COG8-CDG
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
COG4-CDG
COG7-CDG
COG1-CDG
COG5-CDG
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Synonym(s):
- CDG syndrome type 2h
- CDG syndrome type IIh
- CDG-IIh
- CDG2H
- Carbohydrate deficient glycoprotein syndrome type IIh
- Congenital disorder of glycosylation type 2h
- Congenital disorder of glycosylation type IIh
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
COG8 Q96MW5606979
No signs/symptoms info available.