Synonym(s): - Amylo-1,6-glucosidase deficiency - Cori disease - Cori-Forbes disease - Forbes disease - GDE deficiency - GSD due to glycogen debranching enzyme deficiency - GSD type 3 - GSDIII - Glycogen storage disease type 3 - Glycogenosis due to glycogen debranching enzyme deficiency - Glycogenosis type 3 - Limit dextrinosis
Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: any age Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
AGL	P35573	610860

- Autosomal recessive inheritance
- Broad cheeks / cherub-like / cherubin face
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Hypoglycemia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism
- Storage liver disease

- Myopathy