Traits

Traits linked to SLC16A1

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The Human Phenotype Ontology links 15 traits to SLC16A1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Ketoacidosis	Always
Ketonuria	Often (30–79%)
Hyperinsulinemia	Not recorded
Hyperinsulinemic hypoglycemia	Not recorded
Hypoglycemic seizures	Not recorded
Ketotic hypoglycemia	Not recorded
Low blood sugar	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Exercise-induced muscle cramps	Not recorded
Exercise-induced muscle fatigue	Not recorded
Exercise-induced muscle stiffness	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Not recorded
Pancreatic islet-cell hyperplasia	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Often (30–79%)
Global developmental delay	Not recorded

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 SLC16A1 and how often each is seen. Find out more at hpo.jax.org.

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