Traits

Traits linked to SF3B2

splicing factor 3b subunit 2

The Human Phenotype Ontology links 53 traits to SF3B2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Little lower jaw	Very often (80–99%)
Benign eye tumor	Often (30–79%)
Decreased size of maxilla	Often (30–79%)
Facial asymmetry	Often (30–79%)
Skin tag in front of the ear	Often (30–79%)
Transverse facial cleft	Often (30–79%)
Cleft upper eyelid	Sometimes (5–29%)
Maxillozygomatic hypoplasia	Sometimes (5–29%)
Brain tissue sticks out through back of skull	Not recorded
Branchial anomaly	Not recorded
Cleft palate	Not recorded
Cleft upper lip	Not recorded
Decreased size of facial muscles	Not recorded
Decreased size of half of the face	Not recorded
Narrow opening between the eyelids	Not recorded
Wide mouth	Not recorded
Zygomatic flattening	Not recorded

Abnormality of the ear

Trait	How often it is seen
Small ears	Often (30–79%)
Absent ear canal	Sometimes (5–29%)
Duplicated tragus	Sometimes (5–29%)
Underdeveloped tragus	Sometimes (5–29%)
Absent ear	Not recorded
Conductive deafness	Not recorded
Deformed external ear on one side	Not recorded
Sensorineural hearing impairment	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Right aortic arch	Sometimes (5–29%)
Narrowing of aorta	Not recorded
Patent ductus arteriosus	Not recorded
Tetralogy of Fallot	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)
Abnormally small eyeball	Not recorded
Absence of eyeballs	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal kidney location	Not recorded
Absent kidney	Not recorded
Multicystic kidney dysplasia	Not recorded
Ureteropelvic junction obstruction	Not recorded
Vesicoureteral reflux	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cervical ribs	Often (30–79%)
Scoliosis	Sometimes (5–29%)
Block vertebrae	Not recorded
Missing part of vertebrae	Not recorded
Underdeveloped vertebrae	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Mild global developmental delay	Often (30–79%)
Agenesis of corpus callosum	Not recorded
Chiari malformation	Not recorded
Intellectual disability	Not recorded
Too much cerebrospinal fluid in the brain	Not recorded

Abnormality of limbs

Trait	How often it is seen
Knock knees	Sometimes (5–29%)
Partial duplication of the thumb bones	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Poorly developed lungs	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 SF3B2 and how often each is seen. Find out more at hpo.jax.org.

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