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	Hvor ofte det ses
Intellectual disability	Meget ofte (80–99 %)
Abnormal pyramidal sign	Ofte (30–79 %)
Ataxia	Ofte (30–79 %)
Brain degeneration	Ofte (30–79 %)
Choreoathetosis	Ofte (30–79 %)
Decreased muscle movement	Ofte (30–79 %)
Delayed ability to walk	Ofte (30–79 %)
Delayed myelination	Ofte (30–79 %)
Delayed speech and language development	Ofte (30–79 %)
Difficulty sleeping	Ofte (30–79 %)
Dystonia	Ofte (30–79 %)
Increased reflexes	Ofte (30–79 %)
Abnormality of extrapyramidal motor function	Nogle gange (5–29 %)
Babinski sign	Nogle gange (5–29 %)
Brisk reflexes	Nogle gange (5–29 %)
Epilepsy	Nogle gange (5–29 %)
IQ between 34 and 49	Nogle gange (5–29 %)
Disorder of involuntary muscle movements	Sjældent (1–4%)
Clonus	Ikke registreret
Delayed CNS myelination	Ikke registreret
Difficulty articulating speech	Ikke registreret
Inability to walk	Ikke registreret
Intellectual disability, severe	Ikke registreret
Involuntary writhing movements in fingers, hands, toes, and feet	Ikke registreret
Irritability	Ikke registreret
Leukodystrophy	Ikke registreret
Severe global developmental delay	Ikke registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Low muscle tone in trunk	Meget ofte (80–99 %)
Funnel chest	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Kyphoscoliosis	Ofte (30–79 %)
Muscle degeneration	Ofte (30–79 %)
Flexed joint that cannot be straightened	Nogle gange (5–29 %)
Generalized muscle weakness	Nogle gange (5–29 %)
Low muscle tone, in neonatal onset	Nogle gange (5–29 %)
Poor head control	Nogle gange (5–29 %)
Spastic tetraplegia	Nogle gange (5–29 %)
Diffuse skeletal muscle wasting	Ikke registreret
Scoliosis	Ikke registreret
Spastic paraplegia	Ikke registreret

Abnormality of head or neck

Trait	Hvor ofte det ses
Long face	Ofte (30–79 %)
Myopathic facies	Ofte (30–79 %)
Narrow face	Ofte (30–79 %)
Abnormally small head	Nogle gange (5–29 %)
Big head present at birth	Sjældent (1–4%)
Drooling	Ikke registreret
Narrow forehead	Ikke registreret

Abnormality of limbs

Trait	Hvor ofte det ses
Dropped arches	Ofte (30–79 %)
Pes valgus	Ofte (30–79 %)
Abnormal rhythmic movements of ankle	Nogle gange (5–29 %)
Increased muscle tone of arm or leg	Nogle gange (5–29 %)
Bunion	Ikke registreret

Abnormality of the ear

Trait	Hvor ofte det ses
Large ears	Ikke registreret
Prominent antihelix	Ikke registreret
Stahl ear	Ikke registreret
Underfolded superior helices	Ikke registreret

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Abnormal thyroid function	Ofte (30–79 %)
Increased circulating free T3	Ofte (30–79 %)
Elevated circulating thyroid-stimulating hormone concentration	Ikke registreret
Underactive thyroid	Ikke registreret

Growth abnormality

Trait	Hvor ofte det ses
Decreased body mass index	Ofte (30–79 %)
Faltering weight in infancy	Ofte (30–79 %)
Short stature	Nogle gange (5–29 %)
Small for gestational age	Sjældent (1–4%)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
Less than 10 fetal movements in 12 hours	Nogle gange (5–29 %)
High levels of amniotic fluid	Sjældent (1–4%)
Premature birth	Sjældent (1–4%)

Abnormality of the eye

Trait	Hvor ofte det ses
Involuntary, rapid, rhythmic eye movements	Nogle gange (5–29 %)
Rotary nystagmus	Nogle gange (5–29 %)
Abnormal conjugate eye movement	Ikke registreret

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Elevated heart rate	Ofte (30–79 %)
High blood pressure	Ofte (30–79 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Feeding difficulties in infancy	Ofte (30–79 %)
Prolonged yellowing of skin in newborn	Nogle gange (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Undescended testes	Nogle gange (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Recurrent respiratory infections	Ofte (30–79 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Excessive sweating	Ofte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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