congenital disorder of glycosylation, type ICC
MONDO:0026729Mondo
Findings
No curated finding names congenital disorder of glycosylation, type ICC yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Type I transferrin isoform profileHPOHP:0003642
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 2 reported patients
Where it sits
Other names
1 name
Resolves to: congenital disorder of glycosylation, type ICC
- Also called
- congenital disorder of glycosylation, type Icc, X-linked recessive