Traits

Traits linked to VPS4A

vacuolar protein sorting 4 homolog A

The Human Phenotype Ontology links 33 traits to VPS4A, 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
Delayed speech and language development	Always
Difficulty sleeping	Always
Intellectual disability, severe	Always
Motor delay	Always
Severe global developmental delay	Always
Dystonia	Very often (80–99%)
Absent speech development	Often (30–79%)
Ataxia	Often (30–79%)
Epilepsy	Often (30–79%)
Small cerebellum	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Cerebellar vermis hypoplasia	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
More grooves in brain	Sometimes (5–29%)
Pontocerebellar atrophy	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Visual impairment	Always
Clouding of the lens of the eye at birth	Very often (80–99%)
Breakdown of light-sensitive cells in back of eye	Often (30–79%)
Scleral staphyloma	Often (30–79%)
Visual fixation instability	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Very often (80–99%)
Feeding difficulties	Often (30–79%)
Gallstones	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Very often (80–99%)
Low muscle tone	Very often (80–99%)
Inability to make and keep healthy fat tissue	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Small head present at birth	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Microvesicular hepatic steatosis	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 VPS4A and how often each is seen. Find out more at hpo.jax.org.

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