COG1-congenital disorder of glycosylation
Findings
No curated finding names COG1-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0012637), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
81 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.
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient · Childhood onset
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient · Childhood onset
- Failure to thrive in infancyHPOHP:0001531
- 1 of 1 reported patient
- Feeding difficulties in infancyHPOHP:0008872
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Left ventricular hypertrophyHPOHP:0001712
- 1 of 1 reported patient · Infantile onset
- Low-set ears
Show the remaining 69
- Short neckHPOHP:0000470
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Small handHPOHP:0200055
- 1 of 1 reported patient
- Type II transferrin isoform profileHPOHP:0012301
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Upslanted palpebral fissureHPOHP:0000582
- 1 of 1 reported patient
- RhizomeliaHPOHP:0008905
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
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.
- COG1HGNC:6545
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · ClinGen · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: COG1-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type IIgCDG syndrome type IIgCDG-IIgCDG2GCOG1-CDGcongenital disorder of glycosylation type 2gcongenital disorder of glycosylation type IIg