Traits

Traits linked to RNF168

ring finger protein 168

The Human Phenotype Ontology links 46 traits to RNF168, 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
Specific learning disability	Often (30–79%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Abnormal gait	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Can't control feelings	Sometimes (5–29%)
Clumsiness	Sometimes (5–29%)
Demyelinating peripheral neuropathy	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Poor hand-eye coordination	Sometimes (5–29%)
Mild global developmental delay	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Chromosomal breakage induced by ionizing radiation	Very often (80–99%)
Decreased circulating IgA concentration	Very often (80–99%)
Decreased circulating IgG concentration	Very often (80–99%)
Decreased circulating IgM concentration	Sometimes (5–29%)
Increased sensitivity to ionizing radiation	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Often (30–79%)
Chronic sinus disease	Often (30–79%)
Recurrent sinus disease	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Small dilated blood vessels near membrane covering front of eye and eyelids	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Decreased immune function	Very often (80–99%)
Bronchitis	Often (30–79%)
Pneumonia	Often (30–79%)
Recurrent pneumonia	Often (30–79%)
Recurrent viral infections	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality in area between air sacs in lung	Sometimes (5–29%)
Neonatal asphyxia	Sometimes (5–29%)
Pulmonary scarring	Sometimes (5–29%)
Respiratory failure	Sometimes (5–29%)
Stiff lung or chest wall causing decreased lung volume	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Generalized swelling of lymph nodes	Sometimes (5–29%)
Redness of skin or mucous membrane	Sometimes (5–29%)
Spider veins	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Sometimes (5–29%)
Diarrhea	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Scaling skin	Sometimes (5–29%)
Dry skin	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Weight loss	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating alpha-fetoprotein concentration	Very often (80–99%)
Episodic fever	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Intraventricular hemorrhage	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Middle ear infection	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Enuresis nocturna	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	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 RNF168 and how often each is seen. Find out more at hpo.jax.org.

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