Traits

Traits linked to HS6ST2

heparan sulfate 6-O-sulfotransferase 2

The Human Phenotype Ontology links 24 traits to HS6ST2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Big lower jaw	Always
Decreased volume of lip	Always
Downturned corners of mouth	Always
Downward slanting of the opening between the eyelids	Always
Large forehead	Always
Narrow forehead	Always
Triangular face	Always
Zygomatic flattening	Always

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Delayed speech and language development	Always
Febrile seizure (within the age range of 3 months to 6 years)	Always
Global developmental delay	Always
Lateral ventricle dilatation	Always
Poor speech	Always

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always
Low-set ears	Always
Small ears	Always

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased blood alanine	Always
Elevated lactate:pyruvate ratio	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Always
Severe near sightedness	Always

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	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 HS6ST2 and how often each is seen. Find out more at hpo.jax.org.

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