Disease association ontology term - MONDO:0011291 - ALG6-congenital disorder of glycosylation 1C
Term summary
- ID
- MONDO:0011291
- Name
- ALG6-congenital disorder of glycosylation 1C
- Ontology or CV name
- Disease association
- Definition
- A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).
