Traits

Traits linked to ST3GAL5

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

The Human Phenotype Ontology links 23 traits to ST3GAL5, 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
Developmental stagnation at onset of seizures	Always
Generalized brain degeneration	Always
Global developmental delay	Always
Grand mal seizures	Always
Irritability	Always
Loss of developmental milestones	Always
Multifocal epileptiform discharges	Always
Absent speech development	Not recorded
Choreoathetosis	Not recorded
Jerking	Not recorded
Overactive lower leg reflex	Not recorded
Repeated seizures without recovery between them	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Not recorded
Optic atrophy	Not recorded
Visual loss	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Vomiting	Always
Feeding difficulties in infancy	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Hyporeflexia of upper limbs	Always

Abnormality of the ear

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

Abnormality of the integument

Trait	How often it is seen
Hyperpigmented skin patches	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Always

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 ST3GAL5 and how often each is seen. Find out more at hpo.jax.org.

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