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

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Generalized decreased muscle tone	Des (30–79%)
Low muscle tone in trunk	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Poor head control	Uneori (5–29%)
Rigidity	Uneori (5–29%)
Flexed joint that cannot be straightened	Neînregistrat
Kyphoscoliosis	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Drooping upper eyelid	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Abnormal involuntary eye movements	Rar (1–4%)
Abnormality of vision	Rar (1–4%)
Optic atrophy	Rar (1–4%)
Retina degeneration	Rar (1–4%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Abnormally small head	Des (30–79%)
Delayed eruption of teeth	Des (30–79%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Failure of development of between one and six teeth	Uneori (5–29%)
High forehead	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Acid reflux	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Des (30–79%)
Short stature	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Increased muscle tone of arm or leg	Rar (1–4%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Increased calcium level in kidney	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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