COG4-congenital disorder of glycosylation
Findings
No curated finding names COG4-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.
Definition from the Mondo Disease Ontology (MONDO:0013281), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
34 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Frontotemporal cerebral atrophyHPOHP:0006892
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
Show the remaining 22
- Type II transferrin isoform profileHPOHP:0012301
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Abnormal protein N-linked glycosylationHPOHP:0012347
- Very frequent (80% to 99% of cases)
- Abnormal protein O-linked glycosylationHPOHP:0012358
- Very frequent (80% to 99% of cases)
- Abnormality of the coagulation cascadeHPOHP:0003256
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- CirrhosisHPOHP:0001394
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.
- COG4HGNC:18620
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · ClinGen · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: COG4-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type IIjCDG syndrome type IIjCDG-IIjCDG2JCOG4-CDGcongenital disorder of glycosylation type 2jcongenital disorder of glycosylation type IIj