Traits

Traits linked to VPS50

VPS50 subunit of EARP/GARPII complex

The Human Phenotype Ontology links 19 traits to VPS50, 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
Irritability	Always
Severe global developmental delay	Always
Underdevelopment of part of brain called corpus callosum	Always
Degeneration of cerebellum	Often (30–79%)
Generalized tonic seizure	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating alanine aminotransferase concentration	Always
Elevated circulating aspartate aminotransferase concentration	Always
High blood bilirubin levels	Always
Increased serum bile acid concentration	Often (30–79%)
Mild proteinuria	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Impaired release of bile from liver	Often (30–79%)
Nasogastric tube feeding	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Esodeviation	Often (30–79%)
Severe near sightedness	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Opisthotonus	Always
Poor head control	Always

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Bilateral cryptorchidism	Often (30–79%)

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 VPS50 and how often each is seen. Find out more at hpo.jax.org.

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