Traits

Traits linked to SBF2

SET binding factor 2

The Human Phenotype Ontology links 54 traits to SBF2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Very often (80–99%)
Decreased distal sensory nerve action potential	Very often (80–99%)
Myelin outfoldings	Very often (80–99%)
Poor fine motor coordination	Very often (80–99%)
Decreased sensation in extremities	Often (30–79%)
Inability to move vocal cords	Often (30–79%)
Autism spectrum disorder	Sometimes (5–29%)
High stepping	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Pins and needles feeling	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)
Toe walking	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Absent reflexes	Not recorded
Decreased motor nerve conduction velocity	Not recorded
Decreased number of peripheral myelinated nerve fibers	Not recorded
Decreased reflex response	Not recorded
Onion bulb formation	Not recorded
Segmental peripheral demyelination/remyelination	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormal feet structure	Very often (80–99%)
Areflexia of lower limbs	Very often (80–99%)
Distal lower limb muscle weakness	Very often (80–99%)
Distal upper limb muscle weakness	Very often (80–99%)
Lower limb muscle weakness	Very often (80–99%)
Areflexia of upper limbs	Often (30–79%)
High-arched foot	Often (30–79%)
Proximal lower limb muscle weakness	Often (30–79%)
Dropped arches	Sometimes (5–29%)
Hand muscle weakness	Sometimes (5–29%)
Proximal upper limb muscle weakness	Sometimes (5–29%)
Club feet	Not recorded
Foot drop	Not recorded
Hammertoe	Not recorded
Split hand	Not recorded
Ulnar claw	Not recorded

Abnormality of the eye

Trait	How often it is seen
Glaucoma	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)
Developmental glaucoma	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Enlarged eyeball	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Weakness of outermost muscles	Always
Distal muscle wasting	Often (30–79%)
Kyphoscoliosis	Often (30–79%)
Scoliosis	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Tongue muscle weakness	Sometimes (5–29%)
Wasting of the tongue	Sometimes (5–29%)
Weakness of facial musculature	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Reduced vital capacity	Sometimes (5–29%)
Respiratory function loss	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the integument

Trait	How often it is seen
Penetrating foot ulcers	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Often (30–79%)

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 SBF2 and how often each is seen. Find out more at hpo.jax.org.

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