Traits

Traits linked to APTX

aprataxin

The Human Phenotype Ontology links 70 traits to APTX, 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
Diffuse cerebral atrophy	Always
Global developmental delay	Always
Impaired distal vibration sensation	Always
Jerking	Always
Loss of ability to walk	Always
Repeated seizures without recovery between them	Always
Right hemiplegia	Always
Tremor	Always
Abnormal gait	Very often (80–99%)
Abnormality of the nervous system	Very often (80–99%)
Absent reflexes	Very often (80–99%)
Decreased sensation in extremities	Very often (80–99%)
Peripheral neuropathy	Very often (80–99%)
Chorea	Often (30–79%)
Dystonia	Often (30–79%)
Impaired executive functioning	Often (30–79%)
Mental deterioration	Sometimes (5–29%)
Axonal degeneration	Not recorded
Balance impairment	Not recorded
Cognitive impairment	Not recorded
Decreased number of large peripheral myelinated nerve fibers	Not recorded
Decreased reflex response	Not recorded
Dementia	Not recorded
Difficulty articulating speech	Not recorded
Encephalopathy	Not recorded
Epilepsy	Not recorded
Explosive speech	Not recorded
Inability to coordinate movements when walking	Not recorded
Instability or lack of coordination of central trunk muscles	Not recorded
Intellectual disability	Not recorded
Limb ataxia	Not recorded
Motor delay	Not recorded
Peripheral axonal degeneration	Not recorded
Specific learning disability	Not recorded

Abnormality of the eye

Trait	How often it is seen
Oculomotor apraxia	Very often (80–99%)
Gaze-evoked nystagmus	Not recorded
Hypometric saccades	Not recorded
Involuntary, rapid, rhythmic eye movements	Not recorded
Progressive external ophthalmoplegia	Not recorded
Rod-cone dystrophy	Not recorded
Visual loss	Not recorded

Laboratory abnormality

Trait	How often it is seen
Decreased level of coenzyme Q10 in skeletal muscle	Always
High urine protein levels	Always
Elevated blood creatine phosphokinase	Often (30–79%)
Elevated serum cholesterol	Often (30–79%)
Increased lactate in body	Not recorded
Low albumin	Not recorded
Recurrent myoglobinuria	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal muscle wasting	Always
Low muscle tone	Always
Scoliosis	Often (30–79%)
Muscle weakness	Not recorded
Progressive muscle weakness	Not recorded
Ragged-red muscle fibers	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Episodic vomiting	Always
Poor swallowing	Always
Liver failure	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Focal segmental glomerulosclerosis	Always
Glomerular sclerosis	Not recorded
Nephrotic syndrome	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood cell count	Not recorded
Low number of red blood cells or hemoglobin	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Medial flaring of the eyebrow	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
High-arched foot	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Hypergonadotropic hypogonadism	Not recorded

Constitutional symptom

Trait	How often it is seen
Fatigue	Not recorded

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

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