Traits

Traits linked to VPS16

VPS16 core subunit of CORVET and HOPS complexes

The Human Phenotype Ontology links 17 traits to VPS16, 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
Dystonia	Always
Aggressive behavior	Sometimes (5–29%)
Arm dystonia	Sometimes (5–29%)
Bipolar disorder	Sometimes (5–29%)
Diffuse cerebral atrophy	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Globus pallidus hypointensity on susceptibility-weighted imaging	Sometimes (5–29%)
Hypothalamic hamartoma	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)
Leg dystonia	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)
Obsessive compulsive behavior	Sometimes (5–29%)
Oromandibular dystonia	Sometimes (5–29%)
Writer's cramp	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Wry neck	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 VPS16 and how often each is seen. Find out more at hpo.jax.org.

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