Traits

Traits linked to LARS2

leucyl-tRNA synthetase 2, mitochondrial

The Human Phenotype Ontology links 47 traits to LARS2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Primary amenorrhea	Often (30–79%)
Small uterus	Often (30–79%)
Heart shaped uterus	Sometimes (5–29%)
Light or infrequent menstrual periods	Sometimes (5–29%)
Previous menstrual periods stop	Sometimes (5–29%)
Underdeveloped ovary	Sometimes (5–29%)
Early menopause	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Erythroid hyperplasia	Always
Extramedullary hematopoiesis	Always
Increased mean corpuscular volume	Always
Low number of red blood cells or hemoglobin	Always
Low platelet count	Not recorded
Sideroblastic anemia	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Always
Increased blood pressure in blood vessels of lungs	Always
Overriding aorta	Always
Patent ductus arteriosus	Always
Second degree atrioventricular block	Always
High blood pressure	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Cognitive impairment	Sometimes (5–29%)
Inability to coordinate movements when walking	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Tarlov cyst	Sometimes (5–29%)
EEG abnormality	Not recorded

Laboratory abnormality

Trait	How often it is seen
Blood in urine	Always
Higher than normal levels of lactate in blood	Always
Increased lactate in body	Always
Low albumin	Always
Metabolic acidosis	Always
Nonimmune hydrops fetalis	Always

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Always
Small for gestational age	Always
Disproportionate tall stature	Sometimes (5–29%)
Obesity	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal pericardial effusion	Always
Low levels of amniotic fluid	Always

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Always
Decreased liver function	Always

Abnormality of the endocrine system

Trait	How often it is seen
Increased circulating gonadotropin level	Very often (80–99%)
Decreased serum estradiol	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Outward turned elbows	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Progressive sensorineural hearing impairment	Always

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Sometimes (5–29%)

Abnormality of the musculoskeletal system

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

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	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 LARS2 and how often each is seen. Find out more at hpo.jax.org.

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