Traits

Traits linked to WARS2

tryptophanyl tRNA synthetase 2, mitochondrial

The Human Phenotype Ontology links 96 traits to WARS2, by body system: features seen in people with one of the gene's rare conditions.

WARS2

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Action tremor	Always
Aggressive behavior	Always
Ataxia	Always
Communication delay	Always
Degeneration of cerebellum	Always
Delayed CNS myelination	Always
Difficulty articulating speech	Always
Diffuse cerebral atrophy	Always
Disorder of involuntary muscle movements	Always
Dystonia	Always
Generalized brain degeneration	Always
Global developmental delay	Always
Hyperactive movements	Always
Increased reflexes	Always
Intellectual disability	Always
Involuntary writhing movements in fingers, hands, toes, and feet	Always
Lack of coordination of movement	Always
Leukoencephalopathy	Always
Loss of developmental milestones	Always
Multifocal seizures	Always
Severe temper tantrums	Always
Stooped posture	Always
Tremor	Always
Ventriculomegaly	Always
Abnormality of movement	Very often (80–99%)
Parkinsonism	Very often (80–99%)
Abnormal gait	Often (30–79%)
Abnormal periventricular white matter morphology	Often (30–79%)
Abnormal pyramidal sign	Often (30–79%)
Abnormal speech pattern	Often (30–79%)
Anxiety	Often (30–79%)
Cerebral palsy	Often (30–79%)
Cerebral white matter hypoplasia	Often (30–79%)
Chorea	Often (30–79%)
Decreased muscle movement	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Delayed myelination	Often (30–79%)
Depression	Often (30–79%)
Epilepsy	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
Irritability	Often (30–79%)
Limb dystonia	Often (30–79%)
Oculogyric crisis	Often (30–79%)
Orofacial dyskinesia	Often (30–79%)
Psychosis	Often (30–79%)
Slow movements	Often (30–79%)
Cerebellar vermis hypoplasia	Sometimes (5–29%)
Dilated fourth ventricle	Sometimes (5–29%)
IQ less than 20	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
Poor social interactions	Sometimes (5–29%)
Small brainstem	Sometimes (5–29%)
Widened subarachnoid space	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Diffuse skeletal muscle wasting	Always
Low muscle tone in trunk	Always
Muscle weakness	Always
Spastic tetraplegia	Always
Spasticity and rigidity of muscles	Always
Decreased muscle tone in infant	Very often (80–99%)
Difficulty in standing	Sometimes (5–29%)
Poor head control	Sometimes (5–29%)
Muscle degeneration	Not recorded

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Always
Lazy eye	Always
Outward facing eye ball	Always
Impaired smooth pursuit	Sometimes (5–29%)
Rod-cone dystrophy	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Cross-eyed	Not recorded
Optic atrophy	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Long philtrum	Always
Decreased facial expressions	Often (30–79%)
Abnormal facial shape	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Low blood sugar	Always
Abnormal circulating carboxylic acid concentration	Often (30–79%)
Abnormal circulating enzyme concentration or activity	Often (30–79%)
Higher than normal levels of lactate in blood	Often (30–79%)
Increased lactate in body	Often (30–79%)
Low blood sugar in newborn	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Constipation	Often (30–79%)
Feeding difficulties	Often (30–79%)
Poor swallowing	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Often (30–79%)
Positional foot deformity	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low platelet count	Always

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Disease of the heart muscle	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Collapsed lung	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 WARS2 and how often each is seen. Find out more at hpo.jax.org.

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