Traits

Traits linked to SPOP

speckle type BTB/POZ protein

The Human Phenotype Ontology links 71 traits to SPOP, 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
Highly arched eyebrow	Always
Pointed chin	Always
Small head present at birth	Always
Smooth philtrum	Always
Broad head shape	Often (30–79%)
Bulbous nose	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Eye folds	Often (30–79%)
Flattened bony protrusion above eyes	Often (30–79%)
Large forehead	Often (30–79%)
Long eyelashes	Often (30–79%)
Low frontal hairline	Often (30–79%)
Monobrow	Often (30–79%)
Narrow eyelid opening	Often (30–79%)
Narrow forehead	Often (30–79%)
Prominent area between the eyebrows	Often (30–79%)
Prominent nasal bridge	Often (30–79%)
Short nose	Often (30–79%)
Sparse eyebrow	Often (30–79%)
Both sided cleft lip	Sometimes (5–29%)
Broad opening between the eyelids	Sometimes (5–29%)
Decreased volume of lip	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent nose	Sometimes (5–29%)
Right and left cleft palate	Sometimes (5–29%)
Triangular face	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Always
Motor delay	Always
Simplified gyral pattern	Always
Delayed ability to walk	Often (30–79%)
Epilepsy	Often (30–79%)
Migraine	Often (30–79%)
Pauses in breathing while sleeping	Often (30–79%)
Self-injurious behavior	Often (30–79%)
Chorea	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Weakness of one side of body	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always
Low-set ears	Often (30–79%)
Small ears	Often (30–79%)
Thickened helices	Often (30–79%)
Ears rotated toward back of head	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Gastrostomy tube feeding in infancy	Often (30–79%)
Prolonged yellowing of skin in newborn	Often (30–79%)
Chronic constipation	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Deeply set eye	Often (30–79%)
Optic nerve hypoplasia	Often (30–79%)
Cross-eyed	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Often (30–79%)
Tapered finger	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Vesicoureteral reflux	Often (30–79%)
Multicystic kidney dysplasia	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone, in neonatal onset	Often (30–79%)
Spasticity and rigidity of muscles	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Underdeveloped left heart	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal respiratory distress	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Sometimes (5–29%)

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

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