congenital disorder of glycosylation, type IIq
MONDO:0054559Mondo
Findings
No curated finding names congenital disorder of glycosylation, type IIq yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
17 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 glycosylationHPOHP:0012345
- 1 of 1 reported patient
- Decreased circulating ceruloplasmin concentrationHPOHP:0010837
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Decreased circulating copper concentrationHPOHP:0011967
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Diffuse cerebral atrophyHPOHP:0002506
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- Generalized tonic seizureHPOHP:0010818
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Secondary microcephalyHPOHP:0005484
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Small pituitary glandHPOHP:0012506
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Spastic tetraplegiaHPOHP:0002510
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
Show the remaining 5
- Abnormality of the coagulation cascadeHPOHP:0003256
- Frequent (30% to 79% of cases)
- Decreased liver functionHPOHP:0001410
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Psychomotor deteriorationHPOHP:0002361
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- 0 of 1 reported patient
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.
- COG2HGNC:6546
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · ClinGen · Autosomal recessive · 2024
Where it sits
Other names
2 names
Resolves to: congenital disorder of glycosylation, type IIq
- Also called
- COG2-CDGCOG2-related congenital disorder of glycosylation