Traits

Traits linked to VPS13D

vacuolar protein sorting 13 homolog D

The Human Phenotype Ontology links 42 traits to VPS13D, 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
Abnormal lower motor neuron morphology	Very often (80–99%)
Abnormal pyramidal sign	Very often (80–99%)
Ataxia	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%)
Limb ataxia	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%)
Degeneration of cerebellum	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Impaired proprioception	Often (30–79%)
Jerking	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%)
Epilepsy	Sometimes (5–29%)
Impaired executive functioning	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Abnormal cerebral white matter morphology	Rarely (1–4%)
Babinski sign	Not recorded
Dystonia	Not recorded
Increased reflexes	Not recorded
Peripheral axonal neuropathy	Not recorded
Tremor	Not recorded

Abnormality of the eye

Trait	How often it is seen
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%)
Gaze-evoked nystagmus	Sometimes (5–29%)
Macrosaccadic oscillations	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Distal muscle wasting	Not recorded
Frequent falls	Not recorded
Low muscle tone in trunk	Not recorded
Weakness of outermost muscles	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Wry neck	Sometimes (5–29%)
Abnormally small head	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
High-arched foot	Often (30–79%)
Lower limb muscle weakness	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 VPS13D and how often each is seen. Find out more at hpo.jax.org.

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