Traits

Traits linked to TARDBP

TAR DNA binding protein

The Human Phenotype Ontology links 112 traits to TARDBP, 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
Abnormal lower motor neuron morphology	Very often (80–99%)
Abnormal shape of upper motor neuron	Very often (80–99%)
Frontotemporal dementia	Very often (80–99%)
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%)
Abnormality of extrapyramidal motor function	Often (30–79%)
Anxiety	Often (30–79%)
Apraxia	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%)
Degeneration of the lateral corticospinal tracts	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Depression	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Difficulty making arithmetical calculations	Often (30–79%)
Dystonia	Often (30–79%)
Gliosis	Often (30–79%)
Hallucinations	Often (30–79%)
Hoffmann sign	Often (30–79%)
Inability to walk	Often (30–79%)
Increased reflexes	Often (30–79%)
Lack of feeling, emotion, interest	Often (30–79%)
Muscle twitch	Often (30–79%)
Neuronal loss in the cerebral cortex	Often (30–79%)
Paralysis	Often (30–79%)
Parkinsonism	Often (30–79%)
Partial paralysis of legs	Often (30–79%)
Progressive cerebellar ataxia	Often (30–79%)
Tetraparesis	Often (30–79%)
Weakness due to upper motor neuron dysfunction	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%)
Decreased reflex response	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Disinhibition	Sometimes (5–29%)
Generalized brain degeneration	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Head titubation	Sometimes (5–29%)
High stepping	Sometimes (5–29%)
Inability to speak	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%)
Perseverative thought	Sometimes (5–29%)
Toe walking	Sometimes (5–29%)
Repetitive movements	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%)
Diffuse skeletal muscle wasting	Often (30–79%)
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%)
Proximal neurogenic muscle weakness	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%)
Bulbar palsy	Sometimes (5–29%)
Neck flexion weakness	Sometimes (5–29%)
Opisthotonus	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Spastic paraparesis	Sometimes (5–29%)
Decreased lung function due to weak breathing muscles	Not recorded

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 eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Supranuclear gaze palsy	Sometimes (5–29%)
Drooping upper eyelid	Rarely (1–4%)

Abnormality of the digestive system

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

Abnormal cellular phenotype

Trait	How often it is seen
Abnormal mitochondrial morphology	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Bilateral sensorineural hearing impairment	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 TARDBP and how often each is seen. Find out more at hpo.jax.org.

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