Traits

Traits linked to SF3B4

splicing factor 3b subunit 4

The Human Phenotype Ontology links 108 traits to SF3B4, by body system: features seen in people with one of the gene's rare conditions.

SF3B4

Abnormality of limbs

Trait	How often it is seen
Abnormality of the thumb	Always
Bilateral radial aplasia	Always
Club feet	Always
Limited elbow extension	Always
Short 5th finger	Always
Short big toe	Always
Shortened 1st long bone of hand	Always
Underdeveloped outer large forearm bone	Always
Webbed 4th-5th toes	Always
Absent fingers	Very often (80–99%)
Absent/small thumb	Very often (80–99%)
Absence/underdevelopment of inner forearm bone	Often (30–79%)
Absent thumb	Often (30–79%)
Aplasia/Hypoplasia of the radius	Often (30–79%)
Fused forearm bones	Often (30–79%)
Short calf bone	Often (30–79%)
Abnormality of the lower limb	Sometimes (5–29%)
Bunion	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Finger-like thumb	Sometimes (5–29%)
Fused thumb bones	Sometimes (5–29%)
Missing outer large bone of forearm	Sometimes (5–29%)
Phocomelia	Sometimes (5–29%)
Short thumb	Sometimes (5–29%)
Broad big toe	Not recorded
Curvature of digit	Not recorded
Fused toes	Not recorded
Hip dislocation	Not recorded
Missing toes	Not recorded
Overlapping toe	Not recorded
Radial deviation of finger	Not recorded
Short toe	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Facial asymmetry	Always
Hair growing down to cheek	Always
Midface retrusion	Always
Narrowing of the tear duct	Always
Velopharyngeal incompetence	Always
Cheekbone underdevelopment	Very often (80–99%)
Decreased size of maxilla	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Prominent nasal bridge	Very often (80–99%)
Small retruded chin	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Abnormal of nasal shape	Often (30–79%)
Abnormality of the palate	Often (30–79%)
Absent lower eyelashes	Often (30–79%)
Adhesion of the temporomandibular joint	Often (30–79%)
Cleft lower eyelid	Often (30–79%)
Cleft palate	Often (30–79%)
Sparse lower eyelashes	Often (30–79%)
Sparse or absent eyebrows	Often (30–79%)
Wide mouth	Often (30–79%)
Cleft soft palate	Sometimes (5–29%)
Non-midline cleft of the upper lip	Sometimes (5–29%)
Abnormally small head	Not recorded
Cleft upper lip	Not recorded
Decrease in jaw mobility	Not recorded
Receding chin	Not recorded
Skin tag in front of the ear	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cervical ribs	Always
Permanent flexion of the finger or toe	Always
Abnormal skeletal development	Very often (80–99%)
Abnormal shape of pelvic girdle bone	Often (30–79%)
High shoulder blade	Often (30–79%)
Joint stiffness	Often (30–79%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Abnormal cervical spine	Not recorded
Scoliosis	Not recorded
Small first rib	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Always
Conductive deafness	Very often (80–99%)
Hearing impairment	Very often (80–99%)
Small ears	Very often (80–99%)
Absent ear canal	Often (30–79%)
Cupped ear	Sometimes (5–29%)
Ears rotated toward back of head	Sometimes (5–29%)
Narrow ear canal	Sometimes (5–29%)
Low-set ears	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Very often (80–99%)
Aqueductal stenosis	Often (30–79%)
Arrhinencephaly	Often (30–79%)
Global developmental delay	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
More grooves in brain	Not recorded
Too much cerebrospinal fluid in the brain	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Mitral valve prolapse	Always
Abnormal cardiovascular system morphology	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Hives	Not recorded
Tetralogy of Fallot	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the uterus	Sometimes (5–29%)
Absent kidney on one side	Sometimes (5–29%)
Absent/small kidney	Sometimes (5–29%)
Heart shaped uterus	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Often (30–79%)
Subglottic stenosis	Sometimes (5–29%)
Hypoplasia of the epiglottis	Not recorded
Laryngeal hypoplasia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged colon lacking nerve cells	Not recorded
Gastroschisis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Drooping upper eyelid	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Prenatal growth deficiency	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	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 SF3B4 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test