ALG9-congenital disorder of glycosylation
Findings
No curated finding names ALG9-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 progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).
Definition from the Mondo Disease Ontology (MONDO:0012117), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
105 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.
- AsthmaHPOHP:0002099
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Cerebellar atrophyHPOHP:0001272
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Cerebral atrophyHPOHP:0002059
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Delayed CNS myelinationHPOHP:0002188
- 4 of 4 reported patients
- EsotropiaHPOHP:0000565
- 1 of 1 reported patient
- Occasional (5% to 29% 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.
- ALG9HGNC:15672
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- Narrower terms (1)
Other names
7 names
Resolves to: ALG9-congenital disorder of glycosylation
- Also called
- ALG9-CDGcarbohydrate deficient glycoprotein syndrome type 1LCDG syndrome type ILCDG-ILCDG1Lcongenital disorder of glycosylation type 1Lmannosyltransferase 7-9 deficiency