Traits

Traits linked to DARS1

aspartyl-tRNA synthetase 1

The Human Phenotype Ontology links 19 traits to DARS1, 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
Babinski sign	Always
Brisk reflexes	Always
Underdevelopment of part of brain called corpus callosum	Very often (80–99%)
Ataxia	Often (30–79%)
CNS hypomyelination	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Motor delay	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Spina bifida occulta	Sometimes (5–29%)
Tethered cord	Sometimes (5–29%)
Leukoencephalopathy	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Lower limb spasticity	Always
Low muscle tone in trunk	Very often (80–99%)
Spastic diplegia	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Optic disc pallor	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Cherry red spot of the macula	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 DARS1 and how often each is seen. Find out more at hpo.jax.org.

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