Traits

Traits linked to SLC35A2

solute carrier family 35 member A2

The Human Phenotype Ontology links 105 traits to SLC35A2, by body system: features seen in people with one of the gene's rare conditions.

SLC35A2

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Epileptic encephalopathy	Always
Epileptic spasm	Always
Abnormality of the nervous system	Very often (80–99%)
Epilepsy	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Hypsarrhythmia	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Abnormal cerebral white matter morphology	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Delayed myelination	Often (30–79%)
Elevated brain N-acetyl aspartate level by MRS	Often (30–79%)
Inability to walk	Often (30–79%)
Infantile spasms	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Small cerebellum	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Atrophy/Degeneration affecting the brainstem	Sometimes (5–29%)
Cerebral white matter atrophy	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
EEG with focal epileptiform discharges	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
Short corpus callosum	Sometimes (5–29%)
Abnormal shape of midbrain	Rarely (1–4%)
Cortical dysplasia	Rarely (1–4%)
Small hippocampus	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Big lower jaw	Always
Coarse facial features	Always
Open mouth	Always
Thick eyebrow	Always
Wide nasal bridge	Always
Abnormal facial shape	Often (30–79%)
Abnormally small head	Often (30–79%)
Exaggerated cupid's bow	Often (30–79%)
Eye folds	Often (30–79%)
Full cheeks	Often (30–79%)
Fused teeth	Often (30–79%)
High palate	Often (30–79%)
Short philtrum	Often (30–79%)
Thin dental enamel	Often (30–79%)
Deformity of the skull	Sometimes (5–29%)
Enlarged cisterna magna	Sometimes (5–29%)
Thickened skin folds of neck	Sometimes (5–29%)
Dandy-Walker malformation	Rarely (1–4%)
Full lips	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of the skeletal system	Very often (80–99%)
Decreased muscle tone in infant	Very often (80–99%)
Low muscle tone	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Poor head control	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal shape of long bone	Sometimes (5–29%)
Limb contractures	Sometimes (5–29%)
Spastic tetraparesis	Sometimes (5–29%)
Double-Jointed	Rarely (1–4%)
Osteopenia	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of the eye	Often (30–79%)
Cerebral visual impairment	Often (30–79%)
Anisometropia	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Outward facing eye ball	Sometimes (5–29%)
Paroxysmal involuntary eye movements	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Not recorded
Ocular flutter	Not recorded
Rod-cone dystrophy	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormality of the hand	Often (30–79%)
Aplasia/hypoplasia involving bones of the extremities	Often (30–79%)
Club feet	Sometimes (5–29%)
Coxa valga	Sometimes (5–29%)
Front half of foot turns inward	Sometimes (5–29%)
Partial hip dislocation	Rarely (1–4%)
Permanent flexion of the finger	Rarely (1–4%)
Short shinbone	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Abnormal glycosylation	Often (30–79%)
Abnormal isoelectric focusing of serum transferrin	Often (30–79%)
Decreased galactosylation of N-linked protein glycosylation	Often (30–79%)
Decreased sialylation of O-linked protein glycosylation	Often (30–79%)
High liver enzymes	Often (30–79%)
Neonatal hyperbilirubinemia	Often (30–79%)
Elevated circulating thyroglobulin concentration	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
High blood pressure	Often (30–79%)
Abnormality of the heart	Sometimes (5–29%)
Tetralogy of Fallot	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Ureteropelvic junction obstruction	Often (30–79%)
Vesicovaginal fistula	Often (30–79%)
Abnormally shaped kidney	Rarely (1–4%)
Transient nephrotic syndrome	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Nasogastric tube feeding	Often (30–79%)
Acid reflux	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Sometimes (5–29%)
Elevated circulating thyroid-stimulating hormone concentration	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of the immune system	Often (30–79%)
Recurrent infections	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormality of the skin	Often (30–79%)
Patchy lightened skin	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Inverted nipples	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	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 SLC35A2 and how often each is seen. Find out more at hpo.jax.org.

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