Traits

Traits linked to VPS41

VPS41 subunit of HOPS complex

The Human Phenotype Ontology links 41 traits to VPS41, 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
Ataxia	Always
Difficulty articulating speech	Always
Generalized dystonia	Always
Global developmental delay	Always
Inability to walk	Always
Peripheral axonal neuropathy	Always
Abnormal lower motor neuron morphology	Very often (80–99%)
Abnormal pyramidal sign	Very often (80–99%)
Inability to coordinate movements when walking	Very often (80–99%)
Instability or lack of coordination of central trunk muscles	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Limb ataxia	Very often (80–99%)
Motor delay	Very often (80–99%)
Progressive cerebellar ataxia	Very often (80–99%)
Somatic sensory dysfunction	Very often (80–99%)
Upper motor neuron dysfunction	Very often (80–99%)
Absent speech development	Often (30–79%)
Cerebellar vermis atrophy	Often (30–79%)
Impaired proprioception	Often (30–79%)
Muscle twitch	Often (30–79%)
Nerve damage causing decreased feeling and movement	Often (30–79%)
Reading disability	Often (30–79%)
Unsteady walk	Often (30–79%)
Corpus callosum atrophy	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Eye of the tiger anomaly of globus pallidus	Sometimes (5–29%)
Iron accumulation in substantia nigra	Sometimes (5–29%)
Jerking	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Optic disc pallor	Always
Abnormal visual fixation	Very often (80–99%)
Abnormal saccadic eye movements	Often (30–79%)
Abnormality of eye movement	Often (30–79%)
Hypermetric saccades	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Retinal pigment epithelial mottling	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Low muscle tone in trunk	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Myopathic facies	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
High-arched foot	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 VPS41 and how often each is seen. Find out more at hpo.jax.org.

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