Traits

Traits linked to VPS13A

vacuolar protein sorting 13 homolog A

The Human Phenotype Ontology links 102 traits to VPS13A, 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
Caudate atrophy	Always
Chorea	Always
Difficulty articulating speech	Always
Lack of feeling, emotion, interest	Always
Lateral ventricle dilatation	Always
Orofacial dyskinesia	Always
Peripheral axonal neuropathy	Always
Self-mutilation of tongue and lips due to involuntary movements	Always
Teeth grinding	Always
Involuntary movements	Very often (80–99%)
Absent reflexes	Often (30–79%)
Anxiety	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Decreased amplitude of sensory action potentials	Often (30–79%)
Decreased reflex response	Often (30–79%)
Depression	Often (30–79%)
Diminished deep tendon reflex	Often (30–79%)
Epilepsy	Often (30–79%)
Falls	Often (30–79%)
Grand mal seizures	Often (30–79%)
Impaired vibratory sensation	Often (30–79%)
Incoordination	Often (30–79%)
Laryngeal dystonia	Often (30–79%)
Limb dystonia	Often (30–79%)
Motor tics	Often (30–79%)
Parkinsonism	Often (30–79%)
Phonic tics	Often (30–79%)
Abnormal hippocampus morphology	Sometimes (5–29%)
Abnormal putamen morphology	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Can't control feelings	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Decreased number of peripheral myelinated nerve fibers	Sometimes (5–29%)
Dementia	Sometimes (5–29%)
Frontal cortical atrophy	Sometimes (5–29%)
Hair-pulling	Sometimes (5–29%)
Head titubation	Sometimes (5–29%)
Head-banging	Sometimes (5–29%)
Hyperactive movements	Sometimes (5–29%)
Inappropriate behavior	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Lingual dystonia	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)
Mental deterioration	Sometimes (5–29%)
Mental slowness	Sometimes (5–29%)
Micrographia	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Obsessive compulsive behavior	Sometimes (5–29%)
Oromandibular dystonia	Sometimes (5–29%)
Paranoia	Sometimes (5–29%)
Resting tremor	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Self-neglect	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)
Slow movements	Sometimes (5–29%)
Slurred speech	Sometimes (5–29%)
Small basal ganglia	Sometimes (5–29%)
Small hippocampus	Sometimes (5–29%)
Abnormal autonomic nervous system physiology	Rarely (1–4%)
Difficulty sleeping	Rarely (1–4%)
Iron accumulation in brain	Rarely (1–4%)
Damage to nerves that sense feeling	Not recorded
Disinhibition	Not recorded
Dystonia	Not recorded
Personality changes	Not recorded
Progressive choreoathetosis	Not recorded
Psychosis	Not recorded
Tic disorder	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Distal muscle wasting	Often (30–79%)
EMG: neuropathic changes	Often (30–79%)
Muscle fiber degeneration	Often (30–79%)
Muscle tissue disease	Often (30–79%)
Weakness of outermost muscles	Often (30–79%)
Arthritis	Sometimes (5–29%)
Functional motor deficit	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)
Muscle degeneration	Not recorded

Abnormality of limbs

Trait	How often it is seen
Absent ankle reflexes	Often (30–79%)
Equinovarus deformity	Sometimes (5–29%)
Peroneal muscle atrophy	Sometimes (5–29%)
High-arched foot	Not recorded
Limb muscle weakness	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Eyelid spasm	Sometimes (5–29%)
Jaw joint clicking sound	Sometimes (5–29%)
Protruding tongue	Sometimes (5–29%)
Drooling	Not recorded

Abnormality of the eye

Trait	How often it is seen
Square-wave jerks	Often (30–79%)
Abnormality of eye movement	Sometimes (5–29%)
Slow eye movements	Sometimes (5–29%)
Upgaze palsy	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Often (30–79%)
Increased circulating lactate dehydrogenase concentration	Often (30–79%)
Elevated circulating alanine aminotransferase concentration	Rarely (1–4%)
Elevated circulating aspartate aminotransferase concentration	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acanthocytosis	Always
Abnormal erythrocyte enzyme concentration or activity	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Sometimes (5–29%)
Stretched and thinned heart muscle	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Always
Enlarged liver	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Weight loss	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 VPS13A and how often each is seen. Find out more at hpo.jax.org.

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