COG5-congenital disorder of glycosylation
Findings
No curated finding names COG5-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
Definition from the Mondo Disease Ontology (MONDO:0013325), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
51 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.
- Delayed speech and language developmentHPOHP:0000750
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Motor delayHPOHP:0001270
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- 6 of 7 reported patients
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
Show the remaining 39
- Abnormality of the frontal hairlineHPOHP:0000599
- Occasional (5% to 29% of cases)
- Atrophy/Degeneration affecting the brainstemHPOHP:0007366
- Occasional (5% to 29% of cases)
- Autistic behaviorHPOHP:0000729
- Occasional (5% to 29% of cases)
- Brain atrophyHPOHP:0012444
- Occasional (5% to 29% of cases)
- Brisk reflexesHPOHP:0001348
- Occasional (5% to 29% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Occasional (5% to 29% of cases)
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.
- COG5HGNC:14857
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: COG5-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type IIICDG syndrome type IIICDG-IIICDG2ICOG5-CDGcongenital disorder of glycosylation type 2icongenital disorder of glycosylation type III