Traits

Traits linked to GBE1

1,4-alpha-glucan branching enzyme 1

The Human Phenotype Ontology links 50 traits to GBE1, 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 gait	Always
Cognitive impairment	Always
Decreased sensation in extremities	Always
Abnormal pyramidal sign	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Peripheral neuropathy	Very often (80–99%)
Weakness of one side of body	Very often (80–99%)
Behavioral abnormality	Often (30–79%)
Decreased reflex response	Often (30–79%)
Pins and needles feeling	Often (30–79%)
Abnormality of extrapyramidal motor function	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Dementia	Sometimes (5–29%)
Abnormal cerebral white matter morphology	Not recorded
Abnormal shape of upper motor neuron	Not recorded
Diminished deep tendon reflex	Not recorded
Peripheral axonal neuropathy	Not recorded
Tetraparesis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spastic paraplegia	Always
Involuntary muscle stiffness, contraction, or spasm	Very often (80–99%)
Muscle weakness	Very often (80–99%)
Flexed joint that cannot be straightened	Often (30–79%)
Low muscle tone	Often (30–79%)
EMG abnormality	Sometimes (5–29%)
Limitation of joint mobility	Sometimes (5–29%)
Muscle spasm	Sometimes (5–29%)
Arthrogryposis multiplex congenita	Not recorded
Muscle degeneration	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Slow heartbeats	Often (30–79%)
Decrease in blood pressure upon standing up	Sometimes (5–29%)
Disease of the heart muscle	Not recorded
Enlarged liver and spleen	Not recorded
Portal hypertension	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Not recorded
Enlarged vein in esophagus	Not recorded
Liver failure	Not recorded
Scar tissue replaces healthy tissue in the liver	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Always
Lack of bladder control due to nervous system injury	Very often (80–99%)
Urinary bladder sphincter dysfunction	Very often (80–99%)
Tubulointerstitial fibrosis	Not recorded

Laboratory abnormality

Trait	How often it is seen
Increased CSF protein concentration	Sometimes (5–29%)
Fluid retention	Not recorded
Hydrops fetalis	Not recorded

Abnormality of limbs

Trait	How often it is seen
Absent ankle reflexes	Very often (80–99%)
Club feet	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Always
Less than 10 fetal movements in 12 hours	Always

Abnormality of the integument

Trait	How often it is seen
Open skin sore	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded

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 GBE1 and how often each is seen. Find out more at hpo.jax.org.

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