ALG11-congenital disorder of glycosylation
Findings
No curated finding names ALG11-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 (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).
Definition from the Mondo Disease Ontology (MONDO:0013349), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Death in childhood
HPO, annotations 2026-09-02
Features
46 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.
- EEG with generalized epileptiform dischargesHPOHP:0011198
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients
- Type I transferrin isoform profileHPOHP:0003642
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
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.
- ALG11HGNC:32456
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · ClinGen · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: ALG11-congenital disorder of glycosylation
- Also called
- ALG11-CDGcarbohydrate deficient glycoprotein syndrome type IpCDG syndrome type IpCDG-IpCDG1Pcongenital disorder of glycosylation type 1pcongenital disorder of glycosylation type Ip