Traits

Traits linked to SLC2A1

solute carrier family 2 member 1

The Human Phenotype Ontology links 185 traits to SLC2A1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Convulsive status epilepticus	Always
Delayed CNS myelination	Always
Delayed speech and language development	Always
Difficulty articulating speech	Always
Disorder of involuntary muscle movements	Always
Epilepsy	Always
Inability to coordinate movements when walking	Always
Intellectual disability	Always
Interictal EEG abnormality	Always
Jerking	Always
Slurred speech	Always
Ataxia	Very often (80–99%)
Choreoathetosis	Very often (80–99%)
Dystonia	Very often (80–99%)
EEG abnormality	Very often (80–99%)
EEG with focal spike waves	Very often (80–99%)
Encephalopathy	Very often (80–99%)
Episodic hemiplegia	Very often (80–99%)
Generalized myoclonic-atonic seizure	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Paroxysmal dyskinesia	Very often (80–99%)
Repeated seizures without recovery between them	Very often (80–99%)
Abnormal autonomic nervous system physiology	Often (30–79%)
Abnormal pyramidal sign	Often (30–79%)
Attention deficit	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Bilateral tonic-clonic seizure with generalized onset	Often (30–79%)
Brief seizures with staring spells	Often (30–79%)
Chorea	Often (30–79%)
Confusion	Often (30–79%)
EEG with polyspike wave complexes	Often (30–79%)
Episodic ataxia	Often (30–79%)
Extrapyramidal dyskinesia	Often (30–79%)
Generalized hyperreflexia	Often (30–79%)
Generalized myoclonic seizure	Often (30–79%)
Headache	Often (30–79%)
Hyperactive deep tendon reflexes	Often (30–79%)
Increased reflexes	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Involuntary movements	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
Lack of peer relationships	Often (30–79%)
Lethargy	Often (30–79%)
More active than typical	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Paralysis	Often (30–79%)
Pins and needles feeling	Often (30–79%)
Sudden loss of muscle tone	Often (30–79%)
Tetraparesis	Often (30–79%)
Torsion dystonia	Often (30–79%)
Weakness of one side of body	Often (30–79%)
Abnormal emotional state	Sometimes (5–29%)
Abnormality of movement	Sometimes (5–29%)
Absent reflexes	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Apraxia	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Brain imaging abnormality	Sometimes (5–29%)
Bulbar signs	Sometimes (5–29%)
Can't control feelings	Sometimes (5–29%)
Cerebral white matter hypoplasia	Sometimes (5–29%)
Communicating hydrocephalus	Sometimes (5–29%)
Decreased thalamic volume	Sometimes (5–29%)
Delayed myelination	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
EEG with generalized slow activity	Sometimes (5–29%)
EEG with irregular generalized spike and wave complexes	Sometimes (5–29%)
Focal motor seizure	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
Interictal epileptiform activity	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Migraine	Sometimes (5–29%)
Poor social interactions	Sometimes (5–29%)
Simple febrile seizure	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Worsening neurological symptoms	Sometimes (5–29%)
Epileptic encephalopathy	Rarely (1–4%)
Seizure affecting one half of brain	Rarely (1–4%)
Unsteady walk	Rarely (1–4%)
Abnormal pyramidal tract morphology	Not recorded
Absent speech development	Not recorded
Cognitive impairment	Not recorded
Degeneration of cerebrum	Not recorded
Epileptic spasm	Not recorded
Inability to walk	Not recorded
Paroxysmal dystonia	Not recorded
Paroxysmal lethargy	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Progressively abnormally small cranium	Very often (80–99%)
Abnormally small head	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Broad neck	Sometimes (5–29%)
Decreased facial muscle tone	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Exaggerated cupid's bow	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Thin eyebrow	Sometimes (5–29%)
Abnormal facial shape	Rarely (1–4%)
Broad philtrum	Rarely (1–4%)
Full lower lip	Rarely (1–4%)
Long philtrum	Rarely (1–4%)
Nasal tip, upturned	Rarely (1–4%)
Prominent forehead	Rarely (1–4%)
Thick nasal alae	Rarely (1–4%)
Thin red part of the upper lip	Rarely (1–4%)
Wide mouth	Rarely (1–4%)
Wide nasal bridge	Rarely (1–4%)
Development of small head that was not present at birth	Not recorded

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Always
Yellowish cloudy center of lens	Always
Abnormal involuntary eye movements	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Dilated pupil	Often (30–79%)
Double vision	Often (30–79%)
Inward turning cross eyed	Often (30–79%)
Outward facing eye ball	Often (30–79%)
Paroxysmal involuntary eye movements	Often (30–79%)
Cross-eyed	Sometimes (5–29%)
Ocular flutter	Sometimes (5–29%)
Oculomotor apraxia	Sometimes (5–29%)
Zonular cataract	Sometimes (5–29%)
Abnormally small eyeball	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Jaundice	Always
Abnormality of the gastrointestinal tract	Very often (80–99%)
Gastrointestinal dysmotility	Very often (80–99%)
Abdominal bloating	Often (30–79%)
Anorexia	Often (30–79%)
Constipation	Often (30–79%)
Diarrhea	Often (30–79%)
Oral-pharyngeal dysphagia	Often (30–79%)
Poor swallowing	Often (30–79%)
Vomiting	Often (30–79%)
Enlarged liver	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Intracerebral periventricular calcifications	Always
Low muscle tone	Always
Spasticity and rigidity of muscles	Always
Involuntary muscle stiffness, contraction, or spasm	Very often (80–99%)
Muscle stiffness	Often (30–79%)
Spastic paraplegia	Often (30–79%)
Rigidity	Sometimes (5–29%)
Shorter than typical length between neck and abdomen	Sometimes (5–29%)
Lower limb spasticity	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Conjugated hyperbilirubinemia	Always
Decreased circulating haptoglobin concentration	Always
Elevated gamma-glutamyltransferase level	Always
Increased circulating potassium concentration	Always
Low glucose levels in cerebral spinal fluid	Always
Increased CSF lactate	Often (30–79%)
Dehydration	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
Enlarged liver and spleen	Often (30–79%)
Abnormal T-wave	Sometimes (5–29%)
Cardiac conduction abnormality	Sometimes (5–29%)
Abnormal heart rate	Rarely (1–4%)
Disease of the heart muscle	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Often (30–79%)
Flushing	Often (30–79%)
Paleness	Often (30–79%)
Excessive sweating	Sometimes (5–29%)
Frontal balding	Rarely (1–4%)
Premature skin wrinkling	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Hemolytic anemia	Always
Increased immature red blood cells	Always
Stomatocytosis	Always
Abnormal erythrocyte morphology	Very often (80–99%)
Spontaneous hemolytic crises	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Sometimes (5–29%)
Aspiration	Sometimes (5–29%)
Breathing difficulties	Sometimes (5–29%)
Central apnea	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Faltering weight	Often (30–79%)
Growth delay as children	Often (30–79%)
Growth delay	Not recorded

Abnormality of limbs

Trait	How often it is seen
Short fingers or toes	Sometimes (5–29%)
Skewfoot	Sometimes (5–29%)
Webbed fingers or toes	Rarely (1–4%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal distress	Always
High levels of amniotic fluid	Always

Abnormal cellular phenotype

Trait	How often it is seen
Increased intracellular sodium	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Sometimes (5–29%)

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 SLC2A1 and how often each is seen. Find out more at hpo.jax.org.

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