Traits

Traits linked to LARS1

leucyl-tRNA synthetase 1

The Human Phenotype Ontology links 20 traits to LARS1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormality of the coagulation cascade	Not recorded
Low number of red blood cells or hemoglobin	Not recorded
Macrocytic anemia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Frontal bossing	Sometimes (5–29%)
Full cheeks	Sometimes (5–29%)
Abnormally small head	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed motor skills	Sometimes (5–29%)
Epilepsy	Not recorded
Global developmental delay	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fatty infiltration of liver	Not recorded
High liver enzymes	Not recorded
Increased lactate in body	Not recorded

Abnormality of limbs

Trait	How often it is seen
Long fingers	Sometimes (5–29%)
Long toe	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acute liver failure	Not recorded
Enlarged liver	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded

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 LARS1 and how often each is seen. Find out more at hpo.jax.org.

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