Traits

Traits linked to GALE

UDP-galactose-4-epimerase

The Human Phenotype Ontology links 34 traits to GALE, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding gums	Always
Bleeding tendency	Always
Giant platelets	Always
Low platelet count	Always
Macrothrombocytopenia	Always
Megakaryocyte dysplasia	Always
Megakaryocyte nucleus hypolobulation	Always
Bleeding in brain	Often (30–79%)
Bloody nose	Often (30–79%)
Decreased blood leukocyte number	Often (30–79%)
Decreased blood lymphocyte number	Often (30–79%)
Increased immature red blood cells	Often (30–79%)
Low blood cell count	Often (30–79%)
Low blood neutrophil count	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Jaundice	Always
Enlarged liver	Often (30–79%)
Pyloric stenosis	Sometimes (5–29%)
Vomiting	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed motor skills	Always
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Mitral valve prolapse	Often (30–79%)
Tricuspid valve prolapse	Sometimes (5–29%)
Increased spleen size	Not recorded

Laboratory abnormality

Trait	How often it is seen
Hypergalactosemia	Always
Abnormal urinary amino-acid findings	Not recorded
Increased urinary galactose level	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	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 GALE and how often each is seen. Find out more at hpo.jax.org.

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