Traits

Traits linked to NEU1

neuraminidase 1

The Human Phenotype Ontology links 95 traits to NEU1, by body system: features seen in people with one of the gene's rare conditions.

NEU1

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Very often (80–99%)
Abnormal speech pattern	Very often (80–99%)
Abnormality of movement	Very often (80–99%)
Ataxia	Very often (80–99%)
Epilepsy	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Jerking	Very often (80–99%)
Slurred speech	Very often (80–99%)
Decreased nerve conduction velocity	Often (30–79%)
EEG abnormality	Often (30–79%)
Intellectual disability	Often (30–79%)
Tremor	Often (30–79%)
Generalized myoclonic seizure	Sometimes (5–29%)
Lack of coordination of movement	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Intellectual disability, severe	Rarely (1–4%)
Increased reflexes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal skeletal development	Very often (80–99%)
Delayed bone maturation	Very often (80–99%)
Dysostosis multiplex	Very often (80–99%)
Pigeon chest	Very often (80–99%)
Scoliosis	Very often (80–99%)
Shorter than typical length between neck and abdomen	Very often (80–99%)
Abnormal vertebral body morphology	Often (30–79%)
Decreased muscle tone in infant	Often (30–79%)
Hernia	Often (30–79%)
Low muscle tone	Often (30–79%)
Muscle degeneration	Often (30–79%)
Muscle weakness	Often (30–79%)
Hunched back	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded
Speckled calcifications in end part of bone	Not recorded

Abnormality of the eye

Trait	How often it is seen
Corneal opacity	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Noninflammatory retina disease	Very often (80–99%)
Progressive loss of vision	Very often (80–99%)
Visual impairment	Very often (80–99%)
Clouding of the lens of the eye	Often (30–79%)
Clouding of the lens of the eye at birth	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Hypoplasia of the fovea	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)
Yellow/white retinal lesion	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Cherry red spot of the macula	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Full lower lip	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Frontal bossing	Often (30–79%)
Flattened bony protrusion above eyes	Sometimes (5–29%)
Gum enlargement	Sometimes (5–29%)
Protruding tongue	Sometimes (5–29%)
Big calvaria	Rarely (1–4%)
High forehead	Rarely (1–4%)
Facial puffiness	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Very often (80–99%)
Vascular skin abnormality	Very often (80–99%)
Enlarged liver and spleen	Often (30–79%)
Abnormality of the heart	Sometimes (5–29%)
Spider veins	Sometimes (5–29%)
Abnormal EKG	Rarely (1–4%)
Disease of the heart muscle	Not recorded
Enlarged heart	Not recorded

Laboratory abnormality

Trait	How often it is seen
Reduced tissue neuraminidase activity	Always
Abnormal urinary amino-acid findings	Very often (80–99%)
Increased urinary O-linked sialopeptides	Very often (80–99%)
Urinary excretion of sialylated oligosaccharides	Very often (80–99%)
Fluid retention	Often (30–79%)
High urine protein levels	Not recorded
Hydrops fetalis	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Visceromegaly	Very often (80–99%)
Accumulation of fluid in the abdomen	Often (30–79%)
Enlarged liver	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Petechiae	Sometimes (5–29%)
Bone-marrow foam cells	Not recorded
Vacuolated lymphocytes	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Very often (80–99%)
Hearing impairment	Often (30–79%)
Low-set ears	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Hyperkeratosis	Very often (80–99%)
Generalized hypertrichosis	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	Sometimes (5–29%)
Respiratory tract infection	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
More than five fingers or toes on hands or feet	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the kidney	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)

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 NEU1 and how often each is seen. Find out more at hpo.jax.org.

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