Traits

Traits linked to UBQLN2

ubiquilin 2

The Human Phenotype Ontology links 89 traits to UBQLN2, 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
Lou Gehrig's disease	Always
Motor neuron atrophy	Very often (80–99%)
Ongoing loss of nerve cells	Very often (80–99%)
Abnormal gait	Often (30–79%)
Abnormal speech pattern	Often (30–79%)
Anxiety	Often (30–79%)
Arm dystonia	Often (30–79%)
Babinski sign	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Brisk reflexes	Often (30–79%)
Bulbar signs	Often (30–79%)
Can't control feelings	Often (30–79%)
CNS hypomyelination	Often (30–79%)
Cognitive impairment	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Depression	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Dystonia	Often (30–79%)
Hoffmann sign	Often (30–79%)
Inability to walk	Often (30–79%)
Increased reflexes	Often (30–79%)
Muscle twitch	Often (30–79%)
Paralysis	Often (30–79%)
Abnormality of the cerebellum	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Axial dystonia	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Clonus	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Frontotemporal dementia	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Head titubation	Sometimes (5–29%)
High stepping	Sometimes (5–29%)
Jaw hyperreflexia	Sometimes (5–29%)
Language impairment	Sometimes (5–29%)
Loss of articulate speech	Sometimes (5–29%)
Oromandibular dystonia	Sometimes (5–29%)
Parkinsonism	Sometimes (5–29%)
Toe walking	Sometimes (5–29%)
Axonal loss	Not recorded
Gliosis	Not recorded
Involuntary writhing movements in fingers, hands, toes, and feet	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal muscle wasting	Very often (80–99%)
Generalized muscle weakness	Very often (80–99%)
Lower limb spasticity	Very often (80–99%)
Muscle degeneration	Very often (80–99%)
Muscle weakness	Very often (80–99%)
Uncontrollable movement in upper arms	Very often (80–99%)
Fatigable weakness of bulbar muscles	Often (30–79%)
Fatigable weakness of respiratory muscles	Often (30–79%)
Fatigable weakness of swallowing muscles	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Lower-limb joint contracture	Often (30–79%)
Muscle fiber degeneration	Often (30–79%)
Muscle spasm	Often (30–79%)
Progressive distal muscular atrophy	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%)
Neck flexion weakness	Sometimes (5–29%)
Opisthotonus	Sometimes (5–29%)
Proximal neurogenic muscle weakness	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Spastic paraparesis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Decreased salivary flow	Often (30–79%)
Drooling	Often (30–79%)
Wasting of the tongue	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Retrocollis	Sometimes (5–29%)
Tongue twitching	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality on pulmonary function testing	Often (30–79%)
Breathing difficulty	Often (30–79%)
Respiratory failure	Often (30–79%)
Orthopnea	Sometimes (5–29%)
Laryngospasm	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Decreased arm strength	Often (30–79%)
Lower limb muscle weakness	Often (30–79%)
Foot drop	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Often (30–79%)
Gastrostomy tube feeding in infancy	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Supranuclear gaze palsy	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Pain	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Weight loss	Often (30–79%)
Wasting syndrome	Sometimes (5–29%)

Abnormality of the genitourinary system

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

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Often (30–79%)

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 UBQLN2 and how often each is seen. Find out more at hpo.jax.org.

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