Traits

Traits linked to SLC35A3

solute carrier family 35 member A3

The Human Phenotype Ontology links 19 traits to SLC35A3, 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
Autism spectrum disorder	Always
Focal motor seizure	Often (30–79%)
Intellectual disability	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Brief seizures with staring spells	Sometimes (5–29%)
Intellectual disability, severe	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)
Global developmental delay	Not recorded

Abnormality of limbs

Trait	How often it is seen
Acetabular dysplasia	Always
Hip dislocation	Always
Knee dislocation	Always
Permanent flexion of the finger	Always
Hammertoe	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal formation of the hip	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Arthrogryposis multiplex congenita	Not recorded
Generalized decreased muscle tone	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Not recorded
Small retruded chin	Not recorded

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 SLC35A3 and how often each is seen. Find out more at hpo.jax.org.

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