Traits

Traits linked to SLC18A3

solute carrier family 18 member A3

The Human Phenotype Ontology links 40 traits to SLC18A3, by body system: features seen in people with one of the gene's rare conditions.

SLC18A3

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Very often (80–99%)
Multiple joint contractures	Very often (80–99%)
Diffuse skeletal muscle wasting	Often (30–79%)
Fatigable weakness of skeletal muscles	Often (30–79%)
Low muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)
Tired easily	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Little lower jaw	Very often (80–99%)
Cleft palate	Often (30–79%)
Cystic hygroma	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Weakness of facial musculature	Often (30–79%)
Dandy-Walker malformation	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Akinesia	Very often (80–99%)
Decreased muscle movement	Very often (80–99%)
Excessive daytime sleepiness	Very often (80–99%)
Hyperintensity of cerebral white matter on MRI	Often (30–79%)
Abnormal gait	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Eye muscle paralysis	Always
Horizontal nystagmus	Often (30–79%)
Wide-set eyes	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Absent palm lines	Very often (80–99%)
Permanent flexion of the finger	Very often (80–99%)
Inability to straighten knee	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Meconium ileus	Often (30–79%)
Underdeveloped instestine	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Poorly developed lungs	Very often (80–99%)
Respiratory function loss	Very often (80–99%)
Apnea	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal akinesia sequence	Very often (80–99%)
High levels of amniotic fluid	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Often (30–79%)
Pterygium	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Always
Fatigue	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Very often (80–99%)

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 SLC18A3 and how often each is seen. Find out more at hpo.jax.org.

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