Traits

Traits linked to UCHL1

ubiquitin C-terminal hydrolase L1

The Human Phenotype Ontology links 76 traits to UCHL1, 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
Ataxia	Always
Degeneration of cerebrum	Always
Impaired proprioception	Always
Impaired vibration sensation at ankles	Always
Impaired vibratory sensation	Always
Increased reflexes	Always
Intention tremor	Always
Loss of ability to walk	Always
Babinski sign	Very often (80–99%)
Inability to coordinate movements when walking	Very often (80–99%)
Balance impairment	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Depression	Often (30–79%)
Disorder of involuntary muscle movements	Often (30–79%)
Hallucinations	Often (30–79%)
Head titubation	Often (30–79%)
Lack of feeling, emotion, interest	Often (30–79%)
Muscle twitch	Often (30–79%)
Myokymia	Often (30–79%)
Nerve damage causing decreased feeling and movement	Often (30–79%)
Overactive lower leg reflex	Often (30–79%)
Peripheral axonal neuropathy	Often (30–79%)
Postural tremor	Often (30–79%)
Tremor	Often (30–79%)
Abnormal autonomic nervous system physiology	Sometimes (5–29%)
Abnormality of balance	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Dementia	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Difficulty staying or falling asleep	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Hoffmann sign	Sometimes (5–29%)
Panic attack	Sometimes (5–29%)
Poor social interactions	Sometimes (5–29%)
Sensory ataxia	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)
Slow movements	Sometimes (5–29%)
Willis-Ekbom disease	Sometimes (5–29%)
Agitation	Rarely (1–4%)
Frontal lobe dementia	Rarely (1–4%)
Impulsivity	Rarely (1–4%)
Lack of coordination of movement	Not recorded
Ongoing loss of nerve cells	Not recorded
Parkinsonism with favorable response to dopaminergic medication	Not recorded
Tetraparesis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Decreased clarity of vision	Always
Gaze-evoked nystagmus	Always
Optic atrophy	Always
Opto-chiasmatic atrophy	Always
Visual loss	Always
Progressive loss of vision	Often (30–79%)
Saccadic smooth pursuit interruptions	Often (30–79%)
Weakness of muscles controlling eye movement	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Double vision	Rarely (1–4%)
Close sighted	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Lower limb spasticity	Very often (80–99%)
Rigidity	Very often (80–99%)
Myotonia	Often (30–79%)
Pigeon chest	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Muscle spasm	Sometimes (5–29%)
Flexed joint that cannot be straightened	Not recorded
Spastic paraplegia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Sometimes (5–29%)
Delayed gastric emptying	Sometimes (5–29%)
Diarrhea	Sometimes (5–29%)
Nausea	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
High-arched foot	Always
Abnormal rhythmic movements of ankle	Not recorded
Dropped arches	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Female sexual dysfunction	Sometimes (5–29%)
Male sexual dysfunction	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Hyposmia	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 UCHL1 and how often each is seen. Find out more at hpo.jax.org.

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