Traits

Traits linked to AGL

amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase

The Human Phenotype Ontology links 24 traits to AGL, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Full cheeks	Very often (80–99%)
Broad nasal tip	Not recorded
Decreased volume of lip	Not recorded
Depressed nasal bridge	Not recorded
Midface retrusion	Not recorded
Thin red part of the upper lip	Not recorded
Zygomatic flattening	Not recorded

Laboratory abnormality

Trait	How often it is seen
Reduced muscle glycogen debrancher enzyme activity	Always
Increased plasma triglycerides	Very often (80–99%)
Low blood sugar	Very often (80–99%)
Elevated blood creatine phosphokinase	Not recorded
Elevated lipids in blood	Not recorded
High liver enzymes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle tissue disease	Often (30–79%)
Distal muscle wasting	Not recorded
Muscle weakness	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Disease of the heart muscle	Not recorded
Ventricular hypertrophy	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Not recorded
Hepatic fibrosis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Decreased immune function	Very often (80–99%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability, mild	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to AGL and how often each is seen. Find out more at hpo.jax.org.

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