DDOST-congenital disorder of glycosylation
Findings
No curated finding names DDOST-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).
Definition from the Mondo Disease Ontology (MONDO:0013789), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
29 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.
- Accelerated skeletal maturationHPOHP:0005616
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Decreased liver functionHPOHP:0001410
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormality of the coagulation cascadeHPOHP:0003256
- Very frequent (80% to 99% of cases)
- CNS hypomyelinationHPOHP:0003429
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Very frequent (80% to 99% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Very frequent (80% to 99% of cases)
- EsotropiaHPOHP:0000565
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.
- DDOSTHGNC:2728
- Definitive · G2P · Autosomal recessive · 2015
- Moderate · ClinGen · Autosomal recessive · 2023
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
7 names
Resolves to: DDOST-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type IrCDG syndrome type IrCDG-IrCDG1Rcongenital disorder of glycosylation type 1rcongenital disorder of glycosylation type IrDDOST-CDG