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Traits
Traits linked to GLB1
galactosidase beta 1
The Human Phenotype Ontology links 147 traits to GLB1, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the musculoskeletal system
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Abnormal gait | Always |
| Delayed speech and language development | Always |
| Global developmental delay | Always |
| Intellectual disability | Always |
| Motor regression | Always |
| Abnormality of the nervous system | Very often (80–99%) |
| Loss of developmental milestones | Very often (80–99%) |
| Ataxia | Often (30–79%) |
| Difficulty articulating speech | Often (30–79%) |
| Diffuse cerebral atrophy | Often (30–79%) |
| Diffuse white matter abnormalities | Often (30–79%) |
| Exaggerated startle response | Often (30–79%) |
| T2 hypointense basal ganglia | Often (30–79%) |
| Ventriculomegaly | Often (30–79%) |
| Epilepsy | Sometimes (5–29%) |
| Thin corpus callosum | Sometimes (5–29%) |
| Cerebral degeneration | Not recorded |
| Cervical myelopathy | Not recorded |
| Degeneration of cerebrum | Not recorded |
| Developmental stagnation | Not recorded |
| Dystonia | Not recorded |
| Generalized myoclonic seizure | Not recorded |
| Increased reflexes | Not recorded |
| Intellectual disability, mild | Not recorded |
| Progressive psychomotor deterioration | Not recorded |
| Slurred speech | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Coarse facial features | Always |
| Flat face | Always |
| Gum enlargement | Always |
| Narrow mouth | Always |
| Protruding tongue | Always |
| Abnormal facial shape | Very often (80–99%) |
| Cherry red spot of the macula | Often (30–79%) |
| Abnormally large tongue | Sometimes (5–29%) |
| Big sella turcica | Sometimes (5–29%) |
| Broad nasal tip | Sometimes (5–29%) |
| Depressed nasal bridge | Sometimes (5–29%) |
| Frontal bossing | Sometimes (5–29%) |
| Increased thickness of skull cap | Sometimes (5–29%) |
| Long philtrum | Sometimes (5–29%) |
| Big lower jaw | Not recorded |
| Dental cavities | Not recorded |
| Flat nose | Not recorded |
| Grayish enamel | Not recorded |
| Recurrent colds | Not recorded |
| Short neck | Not recorded |
| Wide mouth | Not recorded |
| Widely spaced teeth | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Limb undergrowth | Always |
| High-arched foot | Often (30–79%) |
| Knock knees | Often (30–79%) |
| Small innermost thighbone end part | Often (30–79%) |
| Acetabular dysplasia | Sometimes (5–29%) |
| Broad shaft of long bone | Sometimes (5–29%) |
| Club foot on both sides | Sometimes (5–29%) |
| Flat head of thigh bone | Sometimes (5–29%) |
| Wide long bones of hand | Sometimes (5–29%) |
| Broad wide portion of long bone | Not recorded |
| Coxa valga | Not recorded |
| Hypoplastic acetabulae | Not recorded |
| Pointed proximal second through fifth metacarpals | Not recorded |
| Ulnar deviation of the wrist | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Patent ductus arteriosus | Always |
| Enlarged liver and spleen | Very often (80–99%) |
| Increased spleen size | Very often (80–99%) |
| Disease of the heart muscle | Often (30–79%) |
| Mitral regurgitation | Often (30–79%) |
| Abnormal heart valve morphology | Not recorded |
| Angiokeratoma corporis diffusum | Not recorded |
| Cardiac failure | Not recorded |
| Enlarged and thickened heart muscle | Not recorded |
| Foam cells | Not recorded |
| Intimal thickening in the coronary arteries | Not recorded |
| Narrowing of aortic valve | Not recorded |
| Stretched and thinned heart muscle | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Decreased beta-galactosidase activity | Always |
| Increased urinary galactosylated oligosaccharide | Very often (80–99%) |
| Urinary glycosaminoglycan excretion | Very often (80–99%) |
| Chondroitin sulfate excretion in urine | Often (30–79%) |
| Hydrops fetalis | Sometimes (5–29%) |
| Keratan sulfate excretion in urine | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Blindness | Very often (80–99%) |
| Corneal opacity | Often (30–79%) |
| Opacification of the corneal stroma | Not recorded |
| Optic atrophy | Not recorded |
| Wide-set eyes | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Enlarged liver | Always |
| Poor swallowing | Always |
| Feeding difficulties | Sometimes (5–29%) |
| Inguinal hernia | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Excessive hairiness | Sometimes (5–29%) |
| Mongolian blue spot | Sometimes (5–29%) |
| Thickened skin | Sometimes (5–29%) |
| Excessive hair growth | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Always |
| Prenatal growth deficiency | Rarely (1–4%) |
| Severe short stature | Not recorded |
| Short stature | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Hearing impairment | Very often (80–99%) |
| Large ears | Sometimes (5–29%) |
| Low-set ears | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Sea-blue histiocytosis | Not recorded |
| Vacuolated lymphocytes | Not recorded |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Premature birth | Always |
| Placental issue | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Urinary tract abnormalities | Not recorded |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Aspiration pneumonia | Often (30–79%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Stiff lung or chest wall causing decreased lung volume | 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 GLB1 and how often each is seen. Find out more at hpo.jax.org.
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