STT3A-congenital disorder of glycosylation
Findings
No curated finding names STT3A-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).
Definition from the Mondo Disease Ontology (MONDO:0014270), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
14 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
- 2 of 2 reported patients
- Obligate (100% of cases)
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Obligate (100% of cases)
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Obligate (100% of cases)
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Obligate (100% of cases)
- Generalized hypotoniaHPOHP:0001290
- Obligate (100% of cases)
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
Show the remaining 2
- MicropenisHPOHP:0000054
- Frequent (30% to 79% of cases)
- Small scrotumHPOHP:0000046
- Frequent (30% to 79% 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.
- STT3AHGNC:6172
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · G2P · Autosomal recessive · 2015
Where it sits
Other names
7 names
Resolves to: STT3A-congenital disorder of glycosylation
- Also called
- CDG syndrome type IwCDG-IwCDG1Wcongenital disorder of glycosylation type 1wcongenital disorder of glycosylation type Iwcongenital disorder of glycosylation, type Iw, autosomal recessiveSTT3A-CDG