Traits

Traits linked to VLDLR

very low density lipoprotein receptor

The Human Phenotype Ontology links 36 traits to VLDLR, 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
Cerebellar ataxia associated with quadrupedal gait	Always
Delayed ability to walk	Always
Difficulty articulating speech	Always
Global developmental delay	Always
Inferior cerebellar vermis hypoplasia	Always
Instability or lack of coordination of central trunk muscles	Always
Intellectual disability	Always
Overactive lower leg reflex	Always
Small cerebellum	Always
Abnormal gait	Very often (80–99%)
Ataxia	Very often (80–99%)
Increased reflexes	Very often (80–99%)
Abnormality of movement	Often (30–79%)
Cerebral palsy	Often (30–79%)
Epilepsy	Often (30–79%)
Degeneration of cerebellum	Not recorded
Delayed speech and language development	Not recorded
Difficulty performing quick and alternating movements	Not recorded
Fewer and broader ridges in brain	Not recorded
Inability to coordinate movements when walking	Not recorded
Intention tremor	Not recorded
Lack of coordination of movement	Not recorded
Poor speech	Not recorded
Simplified gyral pattern	Not recorded
Small brainstem	Not recorded
Wide based walk	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Abnormality of the eye	Sometimes (5–29%)
Abnormality of vision	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Gaze-evoked nystagmus	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Muscle degeneration	Often (30–79%)
Generalized decreased muscle tone	Not recorded

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Always

Growth abnormality

Trait	How often it is seen
Short stature	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 VLDLR and how often each is seen. Find out more at hpo.jax.org.

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