Traits

Traits linked to STUB1

STIP1 homology and U-box containing protein 1

The Human Phenotype Ontology links 72 traits to STUB1, 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 cerebellum	Always
Depression	Always
Difficulty articulating speech	Always
Instability or lack of coordination of central trunk muscles	Always
Limb ataxia	Always
Mental deterioration	Always
Abnormal gait	Often (30–79%)
Abnormal motor evoked potentials	Often (30–79%)
Anxiety	Often (30–79%)
Babinski sign	Often (30–79%)
Balance impairment	Often (30–79%)
Chorea	Often (30–79%)
Cognitive impairment	Often (30–79%)
Dystonia	Often (30–79%)
Grand mal seizures	Often (30–79%)
Impaired proprioception	Often (30–79%)
Increased reflexes	Often (30–79%)
Parkinsonism	Often (30–79%)
Unsteady walk	Often (30–79%)
Abnormal speech pattern	Sometimes (5–29%)
Corpus callosum atrophy	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Hand tremor	Sometimes (5–29%)
Head tremor	Sometimes (5–29%)
Hyperactive deep tendon reflexes	Sometimes (5–29%)
Hypoplasia of the pons	Sometimes (5–29%)
Inability to coordinate movements when walking	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Parietal cortical atrophy	Sometimes (5–29%)
Postural tremor	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Speech apraxia	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Epilepsy	Rarely (1–4%)
Difficulty staying or falling asleep	Not recorded
Irritability	Not recorded
Lack of coordination of movement	Not recorded

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Paralysis or weakness of muscles within or surrounding outer part of eye	Often (30–79%)
Eye muscle paralysis	Sometimes (5–29%)
Gaze-evoked nystagmus	Sometimes (5–29%)
Horizontal nystagmus	Sometimes (5–29%)
Abnormal involuntary eye movements	Rarely (1–4%)
Glaucoma	Rarely (1–4%)
Iridocyclitis	Rarely (1–4%)
Oculomotor apraxia	Rarely (1–4%)
Retinal atrophy	Rarely (1–4%)
Saccadic smooth pursuit interruptions	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal muscle wasting	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Inward turned thumb	Often (30–79%)
Long slender fingers	Often (30–79%)
Abnormal rhythmic movements of ankle	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Sometimes (5–29%)
Delayed start of first period	Rarely (1–4%)
Underactive thyroid	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Often (30–79%)
Infertility	Rarely (1–4%)
Light or infrequent menstrual periods	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Rarely (1–4%)
Abnormal sella turcica morphology	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Often (30–79%)
Pancreatic inflammation	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Premature aged appearance	Often (30–79%)
Hair loss	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Noninsulin-dependent diabetes	Rarely (1–4%)
Type 1 diabetes	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)

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 STUB1 and how often each is seen. Find out more at hpo.jax.org.

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