congenital disorder of glycosylation, type IIr
MONDO:0026765Mondo
Findings
No curated finding names congenital disorder of glycosylation, type IIr yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
15 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.
- Cutis laxaHPOHP:0000973
- 3 of 3 reported patients
- Decreased liver functionHPOHP:0001410
- 3 of 3 reported patients · Infantile onset
- Recurrent infectionsHPOHP:0002719
- 3 of 3 reported patients
- HypospadiasHPOHP:0000047
- 2 of 3 reported patients
- Low-set earsHPOHP:0000369
- 2 of 3 reported patients
- MicrognathiaHPOHP:0000347
- 2 of 3 reported patients
- AscitesHPOHP:0001541
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Decreased total CD4+ T cell proportionHPOHP:0032218
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Hepatic steatosisHPOHP:0001397
- HepatomegalyHPOHP:0002240
Show the remaining 3
- JaundiceHPOHP:0000952
- Micronodular cirrhosisHPOHP:0001413
- Type II transferrin isoform profileHPOHP:0012301
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.
- ATP6AP2HGNC:18305
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
1 name
Resolves to: congenital disorder of glycosylation, type IIr
- Also called
- congenital disorder of glycosylation, type IIr, X-linked recessive