congenital disorder of glycosylation type 1EE with or without immunodeficiency
MONDO:0976261Mondo
Findings
No curated finding names congenital disorder of glycosylation type 1EE with or without immunodeficiency 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 · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
60 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.
- Abnormality of the liverHPOHP:0001392
- 1 of 1 reported patient
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 2 of 2 reported patients
- Choking episodesHPOHP:0030842
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Decreased antigen-specific T cell proliferationHPOHP:0031402
- 1 of 1 reported patient
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 1 reported patient
- Decreased naive CD4+ T cell proportionHPOHP:0410378
- 1 of 1 reported patient
- Decreased naive CD8+ T cell proportionHPOHP:0410377
- 1 of 1 reported patient
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 1 of 1 reported patient
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- DehydrationHPOHP:0001944
- 1 of 1 reported patient
Show the remaining 48
- Delayed ability to crawlHPOHP:0033128
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- DrowsinessHPOHP:0002329
- 1 of 1 reported patient
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 2 of 2 reported patients
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 1 of 1 reported patient
Where it sits
- A kind of
Other names
2 names
Resolves to: congenital disorder of glycosylation type 1EE with or without immunodeficiency
- Also called
- MAN2B2-CDGMAN2B2-congenital disorder of glycosylation