Traits

Traits linked to GNE

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

The Human Phenotype Ontology links 135 traits to GNE, 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
Attention deficit	Very often (80–99%)
Communication delay	Very often (80–99%)
Epilepsy	Very often (80–99%)
Hyperactive movements	Very often (80–99%)
Intellectual disability, mild	Very often (80–99%)
Lou Gehrig's disease	Very often (80–99%)
Memory impairment	Very often (80–99%)
Pauses in breathing while sleeping	Very often (80–99%)
Abnormal gait	Often (30–79%)
Abnormal speech pattern	Often (30–79%)
Arm dystonia	Often (30–79%)
Brisk reflexes	Often (30–79%)
Bulbar signs	Often (30–79%)
CNS hypomyelination	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Dystonia	Often (30–79%)
Global developmental delay	Often (30–79%)
High stepping	Often (30–79%)
Inability to walk	Often (30–79%)
Poor fine motor coordination	Often (30–79%)
Abnormality of the cerebellum	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Axial dystonia	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Clonus	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Head titubation	Sometimes (5–29%)
Loss of articulate speech	Sometimes (5–29%)
Oromandibular dystonia	Sometimes (5–29%)
Parkinsonism	Sometimes (5–29%)
Toe walking	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal muscle wasting	Very often (80–99%)
Double-Jointed	Very often (80–99%)
Dysostosis multiplex	Very often (80–99%)
Fatty replacement of skeletal muscle	Very often (80–99%)
Generalized decreased muscle tone	Very often (80–99%)
Lower limb spasticity	Very often (80–99%)
Muscle degeneration	Very often (80–99%)
Muscle weakness	Very often (80–99%)
Neuropathic spinal arthropathy	Very often (80–99%)
Rimmed vacuoles	Very often (80–99%)
Uncontrollable movement in upper arms	Very often (80–99%)
EMG: myopathic abnormalities	Often (30–79%)
EMG: myotonic discharges	Often (30–79%)
EMG: positive sharp waves	Often (30–79%)
Increased variability in muscle fiber diameter	Often (30–79%)
Limited shoulder movement	Often (30–79%)
Lower-limb joint contracture	Often (30–79%)
Muscle fiber degeneration	Often (30–79%)
Spastic diplegia	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Upper-limb joint contracture	Often (30–79%)
Weakness of outermost muscles	Often (30–79%)
Abnormal right hemidiaphragm morphology	Sometimes (5–29%)
Lower limb amyotrophy	Sometimes (5–29%)
Neck flexion weakness	Sometimes (5–29%)
Opisthotonus	Sometimes (5–29%)
Proximal neurogenic muscle weakness	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Deposits immunoreactive to beta-amyloid protein	Not recorded
Small chest	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Eye folds	Very often (80–99%)
Fullness around the eyes	Very often (80–99%)
High, narrow palate	Very often (80–99%)
Prominent forehead	Very often (80–99%)
Smooth philtrum	Very often (80–99%)
Thin red part of the upper lip	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Abnormally large tongue	Often (30–79%)
Big calvaria	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Bell's palsy	Sometimes (5–29%)
Retrocollis	Sometimes (5–29%)
Frontal bossing	Not recorded
High palate	Not recorded
Long philtrum	Not recorded
Low hairline at back of neck	Not recorded
Monobrow	Not recorded

Abnormality of limbs

Trait	How often it is seen
Foot drop	Very often (80–99%)
Long big toe	Very often (80–99%)
Lower limb muscle weakness	Very often (80–99%)
Tibialis muscle weakness	Very often (80–99%)
Webbed 2nd and 3rd toes	Very often (80–99%)
Absent ankle reflexes	Often (30–79%)
Distal lower limb muscle weakness	Often (30–79%)
Hip flexor weakness	Often (30–79%)
Limited wrist extension	Often (30–79%)
Weak shoulder muscles	Often (30–79%)
Abnormal foot muscles	Sometimes (5–29%)
Shoulder girdle muscle wasting	Sometimes (5–29%)
Winged shoulder blade	Sometimes (5–29%)
Weakness of long finger extensor muscles	Rarely (1–4%)
Quadriceps weakness	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormally heavy bleeding during menstruation	Always
Bruising susceptibility	Always
Large platelets	Always
Low platelet count	Always
Petechiae	Always
Recurring nosebleed	Always
Prolonged partial thromboplastin time	Very often (80–99%)
Prolonged prothrombin time	Very often (80–99%)
Bloody nose	Often (30–79%)
Increased megakaryocyte count	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Gallstones	Very often (80–99%)
Intermittent abdominal pain	Very often (80–99%)
Gastrostomy tube feeding in infancy	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)
Belly sticks out	Not recorded
Inguinal hernia	Not recorded

Laboratory abnormality

Trait	How often it is seen
Increased level of N-acetylneuraminic acid in urine	Always
High liver enzymes	Very often (80–99%)
Laboratory abnormality	Very often (80–99%)
Mildly elevated creatine kinase	Very often (80–99%)
Elevated blood creatine phosphokinase	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Very often (80–99%)
Increased spleen size	Often (30–79%)
Disease of the heart muscle	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Supranuclear gaze palsy	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Abnormality of the mitochondrion	Very often (80–99%)
Muscle fiber inclusion bodies	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness	Often (30–79%)
Excessive hairiness over body	Not recorded

Abnormality of the breast

Trait	How often it is seen
Small nipples	Not recorded

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Very often (80–99%)

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Upper airway obstruction	Very often (80–99%)

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Wasting syndrome	Sometimes (5–29%)

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

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