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	Kaip dažnai pasireiškia
EEG abnormality	Visada
Epileptic encephalopathy	Visada
Global developmental delay	Visada
Myoclonic seizure	Visada
Encephalopathy	Labai dažnai (80–99%)
Abnormality of coordination	Dažnai (30–79%)
Babinski sign	Dažnai (30–79%)
Decreased reflex response	Dažnai (30–79%)
Degeneration of cerebrum	Dažnai (30–79%)
Delayed CNS myelination	Dažnai (30–79%)
Delayed speech and language development	Dažnai (30–79%)
EEG with multifocal slow activity	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Epileptic spasm	Dažnai (30–79%)
Focal tonic seizure	Dažnai (30–79%)
Generalized tonic seizure	Dažnai (30–79%)
Grand mal seizures	Dažnai (30–79%)
Hypsarrhythmia	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Intellectual disability, severe	Dažnai (30–79%)
IQ less than 20	Dažnai (30–79%)
Loss of developmental milestones	Dažnai (30–79%)
Myoclonic status epilepticus	Dažnai (30–79%)
Status epilepticus without prominent motor symptoms	Dažnai (30–79%)
Tetraparesis	Dažnai (30–79%)
Underdevelopment of part of brain called corpus callosum	Dažnai (30–79%)
Abnormal corpus callosum morphology	Kartais (5–29%)
Abnormal gait	Kartais (5–29%)
Abnormal myelination	Kartais (5–29%)
Ataxia	Kartais (5–29%)
Attention deficit	Kartais (5–29%)
Autism	Kartais (5–29%)
Behavioral abnormality	Kartais (5–29%)
Brain degeneration	Kartais (5–29%)
Diminished deep tendon reflex	Kartais (5–29%)
Disorder of involuntary muscle movements	Kartais (5–29%)
Impulsivity	Kartais (5–29%)
Involuntary movements	Kartais (5–29%)
Jerking	Kartais (5–29%)
Mental deterioration	Kartais (5–29%)
Tremor	Kartais (5–29%)
Unsteady walk	Kartais (5–29%)
Repeated seizures without recovery between them	Retai (1–4 %)
Absent speech development	Neužfiksuota
Inability to walk	Neužfiksuota
Irritability	Neužfiksuota
Lethargy	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Generalized decreased muscle tone	Dažnai (30–79%)
Low muscle tone in trunk	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Poor head control	Kartais (5–29%)
Rigidity	Kartais (5–29%)
Flexed joint that cannot be straightened	Neužfiksuota
Kyphoscoliosis	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Drooping upper eyelid	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Abnormal involuntary eye movements	Retai (1–4 %)
Abnormality of vision	Retai (1–4 %)
Optic atrophy	Retai (1–4 %)
Retina degeneration	Retai (1–4 %)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormally small head	Dažnai (30–79%)
Delayed eruption of teeth	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Failure of development of between one and six teeth	Kartais (5–29%)
High forehead	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Acid reflux	Kartais (5–29%)
Feeding difficulties	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Short stature	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Increased muscle tone of arm or leg	Retai (1–4 %)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Less than 10 fetal movements in 12 hours	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Increased calcium level in kidney	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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