ALG12-congenital disorder of glycosylation
Findings
No curated finding names ALG12-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).
Definition from the Mondo Disease Ontology (MONDO:0011783), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
107 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 circulating enzyme concentration or activityHPOHP:0012379
- Obligate (100% of cases)
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- Occasional (5% to 29% of cases)
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 1 reported patient
- Decreased circulating IgG concentrationHPOHP:0004315
- 2 of 2 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 1 of 1 reported patient
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.
- ALG12HGNC:19358
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: ALG12-congenital disorder of glycosylation
- Also called
- ALG12-CDGcarbohydrate deficient glycoprotein syndrome type IgCDG syndrome type IgCDG-IgCDG1GCDGIgcongenital disorder of glycosylation type 1gcongenital disorder of glycosylation type Igmannosyltransferase 8 deficiency