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

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Generalized decreased muscle tone	Sık (%30–79)
Low muscle tone in trunk	Sık (%30–79)
Involuntary muscle stiffness, contraction, or spasm	Bazen (%5–29)
Poor head control	Bazen (%5–29)
Rigidity	Bazen (%5–29)
Flexed joint that cannot be straightened	Kaydedilmedi
Kyphoscoliosis	Kaydedilmedi

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Drooping upper eyelid	Bazen (%5–29)
Involuntary, rapid, rhythmic eye movements	Bazen (%5–29)
Abnormal involuntary eye movements	Seyrek (%1–4)
Abnormality of vision	Seyrek (%1–4)
Optic atrophy	Seyrek (%1–4)
Retina degeneration	Seyrek (%1–4)

Abnormality of head or neck

Trait	Ne sıklıkla görüldüğü
Abnormally small head	Sık (%30–79)
Delayed eruption of teeth	Sık (%30–79)
Downward slanting of the opening between the eyelids	Bazen (%5–29)
Failure of development of between one and six teeth	Bazen (%5–29)
High forehead	Bazen (%5–29)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Acid reflux	Bazen (%5–29)
Feeding difficulties	Bazen (%5–29)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Faltering weight	Sık (%30–79)
Short stature	Bazen (%5–29)

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Increased muscle tone of arm or leg	Seyrek (%1–4)

Abnormality of prenatal development or birth

Trait	Ne sıklıkla görüldüğü
Less than 10 fetal movements in 12 hours	Bazen (%5–29)

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Increased calcium level in kidney	Sık (%30–79)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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