Traits

Traits linked to VPS53

VPS53 subunit of GARP complex

The Human Phenotype Ontology links 36 traits to VPS53, 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
Bilateral tonic-clonic seizure with generalized onset	Always
Degeneration of cerebellum	Always
Degeneration of cerebrum	Always
Global developmental delay	Always
Infantile spasms	Always
Intellectual disability	Always
Severe global developmental delay	Always
Tonic seizure	Always
Jerking	Often (30–79%)
Ventriculomegaly	Often (30–79%)
IQ less than 20	Not recorded
Irritability	Not recorded
Myoclonic seizure	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Always
Eye folds	Always
Little lower jaw	Always
Narrow forehead	Always
Short nose	Always
Wide nose	Always
Abnormally small head	Not recorded
Progressively abnormally small cranium	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Opisthotonus	Always
Spastic tetraplegia	Always
Spasticity and rigidity of muscles	Always
Flexed joint that cannot be straightened	Not recorded
Low muscle tone, in neonatal onset	Not recorded
Osteoporosis	Not recorded
Scoliosis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Optic atrophy	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Short stature	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Facial telangiectasia	Always

Abnormality of the ear

Trait	How often it is seen
Large earlobe	Always

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 VPS53 and how often each is seen. Find out more at hpo.jax.org.

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