Traits

Traits linked to SLC1A2

solute carrier family 1 member 2

The Human Phenotype Ontology links 72 traits to SLC1A2, 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
EEG abnormality	Always
Epileptic encephalopathy	Always
Global developmental delay	Always
Myoclonic seizure	Always
Encephalopathy	Very often (80–99%)
Abnormality of coordination	Often (30–79%)
Babinski sign	Often (30–79%)
Decreased reflex response	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Delayed speech and language development	Often (30–79%)
EEG with multifocal slow activity	Often (30–79%)
Epilepsy	Often (30–79%)
Epileptic spasm	Often (30–79%)
Focal tonic seizure	Often (30–79%)
Generalized tonic seizure	Often (30–79%)
Grand mal seizures	Often (30–79%)
Hypsarrhythmia	Often (30–79%)
Intellectual disability	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
IQ less than 20	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Myoclonic status epilepticus	Often (30–79%)
Status epilepticus without prominent motor symptoms	Often (30–79%)
Tetraparesis	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Abnormal corpus callosum morphology	Sometimes (5–29%)
Abnormal gait	Sometimes (5–29%)
Abnormal myelination	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Autism	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Brain degeneration	Sometimes (5–29%)
Diminished deep tendon reflex	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
Involuntary movements	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Mental deterioration	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Unsteady walk	Sometimes (5–29%)
Repeated seizures without recovery between them	Rarely (1–4%)
Absent speech development	Not recorded
Inability to walk	Not recorded
Irritability	Not recorded
Lethargy	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Poor head control	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)
Flexed joint that cannot be straightened	Not recorded
Kyphoscoliosis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Abnormal involuntary eye movements	Rarely (1–4%)
Abnormality of vision	Rarely (1–4%)
Optic atrophy	Rarely (1–4%)
Retina degeneration	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)
High forehead	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Short stature	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Rarely (1–4%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Increased calcium level in kidney	Often (30–79%)

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 SLC1A2 and how often each is seen. Find out more at hpo.jax.org.

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