Traits

Traits linked to FARSB

phenylalanyl-tRNA synthetase subunit beta

The Human Phenotype Ontology links 63 traits to FARSB, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Double-Jointed	Always
Low muscle tone	Always
Low muscle tone in trunk	Always
Osteopenia	Always
Thin bony cortex	Always
Weak and soft bones	Always
Abnormal deposits of calcium in the brain	Very often (80–99%)
Funnel chest	Often (30–79%)
Low solidness and mass of the bones	Often (30–79%)
Scoliosis	Often (30–79%)
Generalized decreased muscle tone	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Always
Acid reflux	Always
Bile duct proliferation	Always
Decreased liver function	Always
Enlarged vein in esophagus	Always
Feeding difficulties	Always
Inguinal hernia	Always
Slowed or blocked flow of bile from liver	Always
Vomiting	Always
Intestinal malrotation	Often (30–79%)
Scar tissue replaces healthy tissue in the liver	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Anasarca	Always
Deficient in vitamin D	Always
Fatty infiltration of liver	Always
Low albumin	Always
Low blood calcium levels	Always
Low blood sugar	Always
Unconjugated hyperbilirubinemia	Always
Vitamin A deficiency	Always
High liver enzymes	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Global developmental delay	Always
Headache	Always
Persistent head lag	Always
Specific learning disability	Always
Degeneration of cerebrum	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality in area between air sacs in lung	Always
Cough	Always
Increased respiratory rate or depth of breathing	Always
Respiratory failure	Always
Respiratory function loss	Always
Emphysema	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay	Always
Prenatal growth deficiency	Always
Short stature	Always
Small for gestational age	Always
Slender build	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
High palate	Always
Prominent forehead	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood cell count	Always
Low number of red blood cells or hemoglobin	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Brain aneurysm	Always
Portal hypertension	Always

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Always
Abnormally close eyes	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Frequent urinary tract infections	Always
Smaller than typical growth of scrotum	Always

Abnormality of prenatal development or birth

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

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	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 FARSB and how often each is seen. Find out more at hpo.jax.org.

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