congenital disorder of glycosylation, type IAA
MONDO:0014904Mondo
Findings
No curated finding names congenital disorder of glycosylation, type IAA 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
- Congenital 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.
- Appendicular spasticityHPOHP:0034353
- 2 of 2 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 2 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients · Congenital onset
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Optic disc pallorHPOHP:0000543
- 1 of 1 reported patient
- Pseudobulbar paralysisHPOHP:0007024
- 1 of 1 reported patient
Show the remaining 5
- ScoliosisHPOHP:0002650
- 2 of 2 reported patients · Congenital onset
- Status epilepticusHPOHP:0002133
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 2 reported patients
- HypertrichosisHPOHP:0000998
- 1 of 2 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 2 reported patients
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.
- NUS1HGNC:21042
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
3 names
Resolves to: congenital disorder of glycosylation, type IAA
- Also called
- CDG1AAcongenital disorder of glycosylation, type 1aacongenital disorder of glycosylation, type IAA; CDG1AA