Traits

Traits linked to SPEN

spen family transcriptional repressor

The Human Phenotype Ontology links 154 traits to SPEN, 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
Horizontal eyebrow	Very often (80–99%)
Long philtrum	Very often (80–99%)
Midface retrusion	Very often (80–99%)
Pointed chin	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Abnormality of the eyebrow	Often (30–79%)
Abnormally small head	Often (30–79%)
Broad head shape	Often (30–79%)
Delayed cranial suture closure	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Eye folds	Often (30–79%)
Flat nose	Often (30–79%)
Narrow mouth	Often (30–79%)
Abnormality of the neck	Sometimes (5–29%)
Broad opening between the eyelids	Sometimes (5–29%)
Bulbous nose	Sometimes (5–29%)
Coarse facial features	Sometimes (5–29%)
Dental crowding	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Drooling	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Full lips	Sometimes (5–29%)
Fullness around the eyes	Sometimes (5–29%)
High frontal hairline	Sometimes (5–29%)
High palate	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long eyebrows	Sometimes (5–29%)
Long eyelashes	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Low frontal hairline	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Narrow eyelid opening	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Oval face	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Prominent nasal tip	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Abnormal gait	Very often (80–99%)
Abnormal speech pattern	Very often (80–99%)
Absent speech development	Very often (80–99%)
Agenesis of corpus callosum	Very often (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
EEG abnormality	Very often (80–99%)
Poor speech	Very often (80–99%)
Ventriculomegaly	Very often (80–99%)
Abnormality of balance	Often (30–79%)
Aggressive behavior	Often (30–79%)
Autism	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Repetitive movements	Often (30–79%)
Self-injurious behavior	Often (30–79%)
Ataxia	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Cancer of early nerve cells	Sometimes (5–29%)
Cranial nerve paralysis	Sometimes (5–29%)
Gray matter heterotopia	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
Increased appetite	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Poor eye contact	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Often (30–79%)
Abnormal cardiac septum morphology	Sometimes (5–29%)
Abnormal heart valve morphology	Sometimes (5–29%)
Abnormality of the spleen	Sometimes (5–29%)
Aortic arch aneurysm	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Spider veins	Sometimes (5–29%)
Strawberry mark	Sometimes (5–29%)
Stretched and thinned heart muscle	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Very often (80–99%)
Abnormality of vision	Often (30–79%)
Cross-eyed	Often (30–79%)
Severe farsightedness	Often (30–79%)
Absent pigmentation in the eye	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
11 pairs of ribs	Sometimes (5–29%)
Abnormal formation of the hip	Sometimes (5–29%)
Cleft ribs	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Joint stiffness	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)
Narrow spinal canal	Sometimes (5–29%)
Rib fusion	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Permanent flexion of the finger	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Short foot	Very often (80–99%)
Curvature of little finger	Often (30–79%)
Dropped arches	Sometimes (5–29%)
Duplication of bones of the toes	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Left and right leg differ in length or width	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Constipation	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Poor swallowing	Often (30–79%)
Abnormality of the anus	Sometimes (5–29%)
Abnormality of the intestine	Sometimes (5–29%)
Abnormality of the liver	Sometimes (5–29%)
Annular pancreas	Sometimes (5–29%)
Pyloric stenosis	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Conductive deafness	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Large earlobe	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)
Small ears	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal female external genitalia	Sometimes (5–29%)
Abnormality of the kidney	Sometimes (5–29%)
Cystic kidney disease	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Underdeveloped penis	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal blistering of the skin	Sometimes (5–29%)
Dry skin	Sometimes (5–29%)
Excessive hairiness	Sometimes (5–29%)
Excessive hairiness over body	Sometimes (5–29%)
Flat, discolored area of skin	Sometimes (5–29%)
Small nail	Sometimes (5–29%)
Stretch marks	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Sometimes (5–29%)
Early onset of puberty	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Obesity	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal distress	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of the immune system	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fatty infiltration of liver	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 SPEN and how often each is seen. Find out more at hpo.jax.org.

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