Traits

Traits linked to TRIM8

tripartite motif containing 8

The Human Phenotype Ontology links 100 traits to TRIM8, by body system: features seen in people with one of the gene's rare conditions.

TRIM8

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
EEG with occipital epileptiform discharges	Always
EEG with parietal epileptiform discharges	Always
Epilepsy	Always
Global developmental delay	Always
Hypsarrhythmia	Always
Intellectual disability, severe	Always
No social interaction	Always
Poor eye contact	Always
Severe global developmental delay	Always
Absent speech development	Very often (80–99%)
Epileptic encephalopathy	Very often (80–99%)
Focal motor seizure	Very often (80–99%)
Generalized myoclonic seizure	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Ataxia	Often (30–79%)
Delayed ability to sit	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Difficulty sleeping	Often (30–79%)
EEG abnormality	Often (30–79%)
EEG with burst suppression	Often (30–79%)
Focal tonic seizure	Often (30–79%)
Grand mal seizures	Often (30–79%)
Increased reflexes	Often (30–79%)
Lethargy	Often (30–79%)
Atypical absence seizure	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Bilateral tonic-clonic seizure with focal onset	Sometimes (5–29%)
Brief seizures with staring spells	Sometimes (5–29%)
Choreoathetosis	Sometimes (5–29%)
Continuous spike and waves during slow sleep	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Decreased reflex response	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Delayed myelination	Sometimes (5–29%)
Diffuse cerebral atrophy	Sometimes (5–29%)
Diffuse white matter abnormalities	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
EEG with spike-wave complexes	Sometimes (5–29%)
Episodic ataxia	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Fewer and broader ridges in brain	Sometimes (5–29%)
Focal impaired awareness seizure	Sometimes (5–29%)
Generalized clonic seizure	Sometimes (5–29%)
Generalized tonic seizure	Sometimes (5–29%)
Head tremor	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Sudden loss of muscle tone	Sometimes (5–29%)
Tonic seizure	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Uni- and bilateral multifocal epileptiform discharges	Sometimes (5–29%)
Dystonia	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Long philtrum	Often (30–79%)
Monobrow	Often (30–79%)
Gum enlargement	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Cleft palate	Rarely (1–4%)
Depressed nasal bridge	Rarely (1–4%)
Nasal tip, upturned	Rarely (1–4%)
Sloping forehead	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Often (30–79%)
Glomerular sclerosis	Sometimes (5–29%)
Glomerulonephritis	Sometimes (5–29%)
Nephrotic syndrome	Sometimes (5–29%)
Renal dysplasia	Rarely (1–4%)
Short penis	Rarely (1–4%)
Ureterocele	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Hip dislocation	Always
Single transverse palmar crease	Sometimes (5–29%)
Broad finger	Rarely (1–4%)
Short finger	Rarely (1–4%)
Wide toe bones	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Always
Feeding difficulties	Often (30–79%)
Poor suck	Often (30–79%)
Poor swallowing	Often (30–79%)
Umbilical hernia	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Often (30–79%)
Poor head control	Often (30–79%)
Double-Jointed	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Sometimes (5–29%)
Cross-eyed	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Fine hair	Sometimes (5–29%)
Absent thumbnail	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Faltering weight	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Often (30–79%)

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 TRIM8 and how often each is seen. Find out more at hpo.jax.org.

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