Traits

Traits linked to HGSNAT

heparan-alpha-glucosaminide N-acetyltransferase

The Human Phenotype Ontology links 74 traits to HGSNAT, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Retinal atrophy	Always
Rod-cone dystrophy	Always
Abnormal electroretinogram	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Blindness	Very often (80–99%)
Difficulties with night vision	Very often (80–99%)
Extreme sensitivity of the eyes to light	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Progressive night blindness	Very often (80–99%)
Retina degeneration	Very often (80–99%)
Spicular pigmentation of the retina	Very often (80–99%)
Visual impairment	Very often (80–99%)
Abnormal central response of multifocal electroretinogram	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Bulging cornea	Often (30–79%)
Cystoid macular edema	Often (30–79%)
Decreased clarity of vision	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Glaucoma	Often (30–79%)
Loss of peripheral vision	Often (30–79%)
Macular crystals	Often (30–79%)
Optic disc drusen	Often (30–79%)
Optic disc pallor	Often (30–79%)
Photoreceptor outer segment loss on macular OCT	Often (30–79%)
Posterior subcapsular cataract	Often (30–79%)
Ring scotoma	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Blind spot located at fixation point	Sometimes (5–29%)
Blurred vision	Sometimes (5–29%)
Epiretinal membrane	Sometimes (5–29%)
Macular geographic atrophy	Sometimes (5–29%)
Partial loss of field of vision	Sometimes (5–29%)
Peripapillary atrophy	Sometimes (5–29%)
Photopsia	Sometimes (5–29%)
Limited peripheral vision	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Often (30–79%)
Loss of speech	Often (30–79%)
Progressive degeneration of movement	Often (30–79%)
Difficulty sleeping	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
More active than typical	Not recorded
Motor delay	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Beaking of vertebral bodies	Sometimes (5–29%)
Joint stiffness	Sometimes (5–29%)
Kyphoscoliosis	Sometimes (5–29%)
Dysostosis multiplex	Not recorded
Hernia	Not recorded
Ovoid thoracolumbar vertebrae	Not recorded
Thickened ribs	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Very often (80–99%)
Monobrow	Sometimes (5–29%)
Dense skull cap	Not recorded
Drooping lower lip	Not recorded
Long, narrow head	Not recorded
Recurrent colds	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of retina blood vessels	Very often (80–99%)
Narrowing of blood vessels in back of eye	Often (30–79%)
Increased spleen size	Sometimes (5–29%)
Asymmetric septal hypertrophy	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Often (30–79%)
Enlarged liver	Sometimes (5–29%)
Diarrhea	Not recorded

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)
Hearing impairment	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Sometimes (5–29%)
Excessive hairiness	Sometimes (5–29%)
Coarse hair	Not recorded

Laboratory abnormality

Trait	How often it is seen
Hyperinsulinemia	Often (30–79%)
Heparan sulfate excretion in urine	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Cellular metachromasia	Not recorded

Growth abnormality

Trait	How often it is seen
Growth abnormality	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 HGSNAT and how often each is seen. Find out more at hpo.jax.org.

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