Traits

Traits linked to GBA2

glucosylceramidase beta 2

The Human Phenotype Ontology links 63 traits to GBA2, 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
Babinski sign	Always
Degeneration of cerebellum	Always
Degeneration of cerebrum	Always
Dementia	Always
Increased reflexes	Always
Underdevelopment of part of brain called corpus callosum	Always
Abnormal gait	Very often (80–99%)
Ataxia	Very often (80–99%)
Progressive cerebellar ataxia	Very often (80–99%)
Abnormal cerebral white matter morphology	Often (30–79%)
Abnormal pyramidal sign	Often (30–79%)
Brisk reflexes	Often (30–79%)
Cognitive impairment	Often (30–79%)
Corpus callosum atrophy	Often (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Impaired proprioception	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Nerve damage causing decreased feeling and movement	Often (30–79%)
Peripheral axonal neuropathy	Often (30–79%)
Hand tremor	Sometimes (5–29%)
Head tremor	Sometimes (5–29%)
Impaired vibration sensation at ankles	Sometimes (5–29%)
Impaired vibration sensation in the lower limbs	Sometimes (5–29%)
Impaired vibratory sensation	Sometimes (5–29%)
Instability or lack of coordination of central trunk muscles	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Orofacial dyskinesia	Sometimes (5–29%)
Wide based walk	Sometimes (5–29%)
Intellectual disability, mild	Rarely (1–4%)
Knee clonus	Not recorded
Mental deterioration	Not recorded
Uncoordinated limb movement	Not recorded
Upper limb dysmetria	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Lower limb spasticity	Always
Spastic paraplegia	Always
Uncontrollable movement in upper arms	Always
Involuntary muscle stiffness, contraction, or spasm	Very often (80–99%)
Scoliosis	Often (30–79%)
Spastic dysarthria	Often (30–79%)
Abnormal shape of tendon	Sometimes (5–29%)
Distal muscle wasting	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Spastic walk	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal shape of sperm	Sometimes (5–29%)
Abnormal sperm head morphology	Sometimes (5–29%)
Decreased testicular size	Sometimes (5–29%)
Infertility	Sometimes (5–29%)
Loss of bladder control	Sometimes (5–29%)
Reduced sperm motility	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Lower limb muscle weakness	Always
High-arched foot	Very often (80–99%)
Abnormal rhythmic movements of ankle	Not recorded
Limb muscle weakness	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Very often (80–99%)
Abnormal saccadic eye movements	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Jerky ocular pursuit movements	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Vitamin A deficiency	Not recorded
Vitamin E deficiency	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	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 GBA2 and how often each is seen. Find out more at hpo.jax.org.

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