Traits

Traits linked to RNF13

ring finger protein 13

The Human Phenotype Ontology links 50 traits to RNF13, 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
Epilepsy	Always
IQ less than 20	Always
Restlessness	Always
Underdevelopment of part of brain called corpus callosum	Always
Delayed CNS myelination	Often (30–79%)
EEG with focal epileptiform discharges	Often (30–79%)
EEG with generalized slow activity	Often (30–79%)
Epileptic encephalopathy	Often (30–79%)
Interictal EEG abnormality	Often (30–79%)
Irritability	Often (30–79%)
Degeneration of cerebellum	Sometimes (5–29%)
Delayed myelination	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Flexed joint that cannot be straightened	Always
Scoliosis	Always
Spasticity and rigidity of muscles	Always
Abnormal formation of the hip	Often (30–79%)
Delayed bone maturation	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Double-Jointed	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)
Increased wrist mobility	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Midface retrusion	Often (30–79%)
Narrow forehead	Often (30–79%)
Narrow nasal bridge	Often (30–79%)
Short chin	Often (30–79%)
Short nose	Often (30–79%)
Abnormal facial shape	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Edema of the dorsum of feet	Sometimes (5–29%)
Increased mobility in finger joint	Sometimes (5–29%)
Metacarpophalangeal joint contracture	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Gastrostomy tube feeding in infancy	Often (30–79%)
Inguinal hernia	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Always
Abnormality of eye movement	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Visual fixation instability	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Abnormal vitamin B12 concentration	Sometimes (5–29%)
Edema of the dorsum of hands	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always

Abnormality of the immune system

Trait	How often it is seen
Infection in blood stream	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Atypical nail growth	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 RNF13 and how often each is seen. Find out more at hpo.jax.org.

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