COG8-congenital disorder of glycosylation
Findings
No curated finding names COG8-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.
Definition from the Mondo Disease Ontology (MONDO:0012635), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Late first trimester onset
HPO, annotations 2026-09-02
Features
73 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal brain lactate level by MRSHPOHP:0025045
- 1 of 1 reported patient
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Agenesis of cerebellar vermisHPOHP:0002335
- 1 of 1 reported patient
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- Alternating esotropiaHPOHP:0001137
- 1 of 1 reported patient · Infantile onset
- 0 of 1 reported patient
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient · Infantile onset
- Frequent (30% to 79% of cases)
Show the remaining 61
- Dandy-Walker malformationHPOHP:0001305
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient · Childhood onset
- 1 of 1 reported patient
- 0 of 1 reported patient
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient · Childhood onset
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COG8HGNC:18623
- Definitive · ClinGen · Autosomal recessive · 2026
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: COG8-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type IIhCDG syndrome type IIhCDG-IIhCDG2HCOG8-CDGcongenital disorder of glycosylation type 2hcongenital disorder of glycosylation type IIh