Traits

Traits linked to SLC16A2

solute carrier family 16 member 2

The Human Phenotype Ontology links 77 traits to SLC16A2, 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
Intellectual disability	Very often (80–99%)
Abnormal pyramidal sign	Often (30–79%)
Ataxia	Often (30–79%)
Brain degeneration	Often (30–79%)
Choreoathetosis	Often (30–79%)
Decreased muscle movement	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Delayed myelination	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Dystonia	Often (30–79%)
Increased reflexes	Often (30–79%)
Abnormality of extrapyramidal motor function	Sometimes (5–29%)
Babinski sign	Sometimes (5–29%)
Brisk reflexes	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)
Disorder of involuntary muscle movements	Rarely (1–4%)
Clonus	Not recorded
Delayed CNS myelination	Not recorded
Difficulty articulating speech	Not recorded
Inability to walk	Not recorded
Intellectual disability, severe	Not recorded
Involuntary writhing movements in fingers, hands, toes, and feet	Not recorded
Irritability	Not recorded
Leukodystrophy	Not recorded
Severe global developmental delay	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Very often (80–99%)
Funnel chest	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Kyphoscoliosis	Often (30–79%)
Muscle degeneration	Often (30–79%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Generalized muscle weakness	Sometimes (5–29%)
Low muscle tone, in neonatal onset	Sometimes (5–29%)
Poor head control	Sometimes (5–29%)
Spastic tetraplegia	Sometimes (5–29%)
Diffuse skeletal muscle wasting	Not recorded
Scoliosis	Not recorded
Spastic paraplegia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Long face	Often (30–79%)
Myopathic facies	Often (30–79%)
Narrow face	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Big head present at birth	Rarely (1–4%)
Drooling	Not recorded
Narrow forehead	Not recorded

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Often (30–79%)
Pes valgus	Often (30–79%)
Abnormal rhythmic movements of ankle	Sometimes (5–29%)
Increased muscle tone of arm or leg	Sometimes (5–29%)
Bunion	Not recorded

Abnormality of the ear

Trait	How often it is seen
Large ears	Not recorded
Prominent antihelix	Not recorded
Stahl ear	Not recorded
Underfolded superior helices	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal thyroid function	Often (30–79%)
Increased circulating free T3	Often (30–79%)
Elevated circulating thyroid-stimulating hormone concentration	Not recorded
Underactive thyroid	Not recorded

Growth abnormality

Trait	How often it is seen
Decreased body mass index	Often (30–79%)
Faltering weight in infancy	Often (30–79%)
Short stature	Sometimes (5–29%)
Small for gestational age	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%)
High levels of amniotic fluid	Rarely (1–4%)
Premature birth	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Rotary nystagmus	Sometimes (5–29%)
Abnormal conjugate eye movement	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Elevated heart rate	Often (30–79%)
High blood pressure	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Often (30–79%)
Prolonged yellowing of skin in newborn	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Excessive sweating	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 SLC16A2 and how often each is seen. Find out more at hpo.jax.org.

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