Traits

Traits linked to PRRT2

proline rich transmembrane protein 2

The Human Phenotype Ontology links 126 traits to PRRT2, 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
Paroxysmal dystonia	Always
Abnormal speech pattern	Very often (80–99%)
Chorea	Very often (80–99%)
Choreoathetosis	Very often (80–99%)
Disorder of involuntary muscle movements	Very often (80–99%)
Dystonia	Very often (80–99%)
EEG abnormality	Very often (80–99%)
Focal motor seizure	Very often (80–99%)
Focal sensory seizure	Very often (80–99%)
Generalized-onset seizure	Very often (80–99%)
Involuntary movements	Very often (80–99%)
Involuntary writhing movements in fingers, hands, toes, and feet	Very often (80–99%)
Migraine with aura	Very often (80–99%)
Neonatal seizure	Very often (80–99%)
Normal interictal EEG	Very often (80–99%)
Paroxysmal dyskinesia	Very often (80–99%)
Balance impairment	Often (30–79%)
Bilateral tonic-clonic seizure with focal onset	Often (30–79%)
Brief seizures with staring spells	Often (30–79%)
Complex febrile seizure	Often (30–79%)
Confusion	Often (30–79%)
CSF lymphocytic pleiocytosis	Often (30–79%)
CSF pleocytosis	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Dissociated sensory loss	Often (30–79%)
Epilepsy	Often (30–79%)
Febrile seizure (within the age range of 3 months to 6 years)	Often (30–79%)
Focal clonic seizure	Often (30–79%)
Focal impaired awareness autonomic seizure	Often (30–79%)
Focal impaired awareness seizure	Often (30–79%)
Focal manual automatism seizure	Often (30–79%)
Focal pedal automatism seizure	Often (30–79%)
Focal tonic seizure	Often (30–79%)
Generalized clonic seizure	Often (30–79%)
Generalized tonic seizure	Often (30–79%)
Grand mal seizures	Often (30–79%)
Hyperactive deep tendon reflexes	Often (30–79%)
Hyperactive movements	Often (30–79%)
Intellectual disability	Often (30–79%)
Paroxysmal choreoathetosis	Often (30–79%)
Pins and needles feeling	Often (30–79%)
Progressive gait ataxia	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Torsion dystonia	Often (30–79%)
Weakness of one side of body	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Alien limb phenomenon	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Atypical absence status epilepticus	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Coma	Sometimes (5–29%)
Cortical dysplasia	Sometimes (5–29%)
Decreased vigilance	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Difficulty finding words	Sometimes (5–29%)
EEG with generalized sharp slow waves	Sometimes (5–29%)
EEG with spike-wave complexes	Sometimes (5–29%)
Experiential epileptic aura	Sometimes (5–29%)
Eyelid myoclonia seizure	Sometimes (5–29%)
Focal head nodding automatism seizure	Sometimes (5–29%)
Generalized cerebral degeneration/underdevelopment	Sometimes (5–29%)
Generalized myoclonic seizure	Sometimes (5–29%)
Impaired temperature sensation	Sometimes (5–29%)
Incoordination	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Language impairment	Sometimes (5–29%)
Limb myoclonus	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Migraine	Sometimes (5–29%)
Neonatal electro-clinical seizure with behavior arrest	Sometimes (5–29%)
Paralysis on one side of body	Sometimes (5–29%)
Poor fine motor coordination	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)
Spontaneous pain sensation	Sometimes (5–29%)
Sudden loss of muscle tone	Sometimes (5–29%)
Writer's cramp	Sometimes (5–29%)
Anxiety	Rarely (1–4%)
Autism spectrum disorder	Rarely (1–4%)
EEG with focal sharp waves	Rarely (1–4%)
Intellectual disability, mild	Rarely (1–4%)
Interictal epileptiform activity	Rarely (1–4%)
Obsessive-compulsive trait	Rarely (1–4%)
Repeated seizures without recovery between them	Rarely (1–4%)
Simple febrile seizure	Rarely (1–4%)
Slow movements	Rarely (1–4%)
Tremor	Rarely (1–4%)
Brain imaging abnormality	Not recorded
Orofacial dyskinesia	Not recorded
Psychomotor deterioration	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blind spot	Often (30–79%)
Double vision	Often (30–79%)
Metamorphopsia	Often (30–79%)
Photopsia	Often (30–79%)
Gaze-evoked horizontal nystagmus	Sometimes (5–29%)
Seesaw nystagmus	Sometimes (5–29%)
Staring gaze	Sometimes (5–29%)
Vertical nystagmus	Sometimes (5–29%)
Amaurosis fugax	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle weakness	Very often (80–99%)
Generalized muscle weakness	Sometimes (5–29%)
Joint stiffness	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)
First dorsal interossei muscle weakness	Rarely (1–4%)
Lower limb spasticity	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Facial tics	Often (30–79%)
Tongue twitching	Often (30–79%)
Decrease in jaw mobility	Sometimes (5–29%)
Facial paralysis	Sometimes (5–29%)
Nuchal rigidity	Sometimes (5–29%)
Wry neck	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Distal upper limb muscle weakness	Sometimes (5–29%)
Dropped arches	Rarely (1–4%)
Limited knee straightening	Rarely (1–4%)
Talipes valgus	Rarely (1–4%)
Tibial torsion	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Often (30–79%)
Hearing impairment	Often (30–79%)
Ringing in ears	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Often (30–79%)
Breathing difficulty	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Brain swelling	Often (30–79%)
Increased CSF protein concentration	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	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 PRRT2 and how often each is seen. Find out more at hpo.jax.org.

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