Traits

Traits linked to NAGLU

N-acetyl-alpha-glucosaminidase

The Human Phenotype Ontology links 31 traits to NAGLU, 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
Intellectual disability	Always
Difficulty sleeping	Very often (80–99%)
Decreased reflex response	Often (30–79%)
Impaired vibratory sensation	Often (30–79%)
Sensory ataxia	Often (30–79%)
Aggressive behavior	Not recorded
Decreased sensation in extremities	Not recorded
Epilepsy	Not recorded
More active than typical	Not recorded
Peripheral neuropathy	Not recorded
Pins and needles feeling	Not recorded
Worsening neurological symptoms	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Dysostosis multiplex	Always
Lower limb pain	Always
Joint stiffness	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	Not recorded
Dense skull cap	Not recorded
Monobrow	Not recorded
Recurrent colds	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Asymmetric septal hypertrophy	Not recorded
Enlarged heart	Not recorded
Increased spleen size	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Not recorded
Enlarged liver	Not recorded

Abnormality of the integument

Trait	How often it is seen
Coarse hair	Not recorded
Excessive hairiness	Not recorded

Laboratory abnormality

Trait	How often it is seen
Reduced tissue alpha-N-acetylglucosaminidase activity	Always
Heparan sulfate excretion in urine	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	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 NAGLU and how often each is seen. Find out more at hpo.jax.org.

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