Traits

Traits linked to LIG3

DNA ligase 3

The Human Phenotype Ontology links 64 traits to LIG3, by body system: features seen in people with one of the gene's rare conditions.

LIG3

Abnormality of the nervous system

Trait	How often it is seen
Headache	Always
Diffuse leukoencephalopathy	Very often (80–99%)
Leukoencephalopathy	Very often (80–99%)
Nerve damage causing decreased feeling and movement	Very often (80–99%)
Abnormal cerebral white matter morphology	Often (30–79%)
Abnormal pyramidal sign	Often (30–79%)
Decreased motor nerve conduction velocity	Often (30–79%)
Decreased number of large peripheral myelinated nerve fibers	Often (30–79%)
Decreased sensory nerve conduction velocity	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Demyelinating peripheral neuropathy	Often (30–79%)
Peripheral axonal neuropathy	Often (30–79%)
Peripheral neuropathy	Often (30–79%)
Pins and needles feeling	Often (30–79%)
Intellectual disability	Sometimes (5–29%)
Involuntary movements	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Lack of coordination of movement	Sometimes (5–29%)
Mental deterioration	Sometimes (5–29%)
Thin corpus callosum	Sometimes (5–29%)
Dementia	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Intestinal pseudo-obstruction	Always
Abdominal bloating	Very often (80–99%)
Abdominal pain	Very often (80–99%)
Acid reflux	Very often (80–99%)
Atrophic muscularis propria	Very often (80–99%)
Gastrointestinal dysmotility	Very often (80–99%)
Nausea	Very often (80–99%)
Poor appetite	Very often (80–99%)
Poor swallowing	Very often (80–99%)
Small intestinal dysmotility	Very often (80–99%)
Vomiting	Very often (80–99%)
Abnormality of the gastrointestinal tract	Often (30–79%)
Diarrhea	Often (30–79%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Paralysis or weakness of muscles within or surrounding outer part of eye	Very often (80–99%)
Drooping upper eyelid	Often (30–79%)
Macular degeneration	Often (30–79%)
Weakness of muscles controlling eye movement	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High liver enzymes	Often (30–79%)
Increased blood alanine	Often (30–79%)
Increased CSF protein concentration	Often (30–79%)
Increased lactate in body	Often (30–79%)
Macrovesicular hepatic steatosis	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Ragged-red muscle fibers	Often (30–79%)
Tired easily	Often (30–79%)
Weakness of outermost muscles	Often (30–79%)
Decreased muscle mass	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Multiple mitochondrial DNA deletions	Always
Abnormality of the mitochondrion	Often (30–79%)
Abnormal cell morphology	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the hand	Often (30–79%)
Foot drop	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Hypergonadotropic hypogonadism	Sometimes (5–29%)
Hypogonadotropic hypogonadism	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Wasting syndrome	Very often (80–99%)
Weight loss	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the extraocular muscles	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Stroke-like episode	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Lack of bladder control due to nervous system injury	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Sometimes (5–29%)

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 LIG3 and how often each is seen. Find out more at hpo.jax.org.

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