Traits

Traits linked to LAGE3

L antigen family member 3

The Human Phenotype Ontology links 46 traits to LAGE3, 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
Global developmental delay	Always
Intellectual disability	Always
Cognitive impairment	Very often (80–99%)
Abnormality of neuronal migration	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
EEG abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
More grooves in brain	Often (30–79%)
Aqueductal stenosis	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Delayed speech and language development	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Small head present at birth	Always
Abnormally small head	Very often (80–99%)
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Narrow forehead	Often (30–79%)
Abnormal dentition	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Always
Stage 5 chronic kidney disease	Always
Kidney damage	Very often (80–99%)
Focal segmental glomerulosclerosis	Often (30–79%)
Minimal change glomerulonephritis	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Low muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal intervertebral disk morphology	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Abnormally close eyes	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Inward turning cross eyed	Not recorded

Abnormality of limbs

Trait	How often it is seen
Long slender fingers	Often (30–79%)
Inward turned thumb	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Stomach hernia	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Underdeveloped ear cartilage	Very often (80–99%)
Large ears	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Always

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 LAGE3 and how often each is seen. Find out more at hpo.jax.org.

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