Traits

Traits linked to SATB1

SATB homeobox 1

The Human Phenotype Ontology links 86 traits to SATB1, by body system: features seen in people with one of the gene's rare conditions.

SATB1

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Delayed speech and language development	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Motor delay	Very often (80–99%)
Behavioral abnormality	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Difficulty sleeping	Often (30–79%)
EEG abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Agitation	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Autism	Sometimes (5–29%)
Brief seizures with staring spells	Sometimes (5–29%)
Delayed ability to sit	Sometimes (5–29%)
Delayed ability to walk	Sometimes (5–29%)
Developmental stagnation at onset of seizures	Sometimes (5–29%)
Difficulty staying asleep	Sometimes (5–29%)
EEG with focal spike waves	Sometimes (5–29%)
Focal myoclonic seizure	Sometimes (5–29%)
Generalized brain degeneration	Sometimes (5–29%)
Generalized clonic seizure	Sometimes (5–29%)
Generalized tonic seizure	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)
Intellectual disability, severe	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Multifocal epileptiform discharges	Sometimes (5–29%)
Nocturnal seizures	Sometimes (5–29%)
Repeated seizures without recovery between them	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)
Stereotypical hand wringing	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Drooling	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Amelogenesis imperfecta	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Delayed eruption of teeth	Sometimes (5–29%)
Dental cavities	Sometimes (5–29%)
Development of small head that was not present at birth	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)
Thin dental enamel	Sometimes (5–29%)
Widely spaced teeth	Sometimes (5–29%)
Widow's peak	Sometimes (5–29%)
Yellow-brown discoloration of the teeth	Sometimes (5–29%)
Abnormality of dental shape	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Double-Jointed	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Low muscle tone in trunk	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Uncontrollable movement in upper arms	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Abnormality of prenatal development or birth	Sometimes (5–29%)
Caesarean section	Sometimes (5–29%)
Low levels of amniotic fluid	Sometimes (5–29%)
Premature birth	Sometimes (5–29%)
Vacuum extraction	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Gap between 1st and 2nd toes	Sometimes (5–29%)
Short foot	Sometimes (5–29%)
Small hand	Sometimes (5–29%)
Webbed 2nd and 3rd toes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Often (30–79%)
Acid reflux	Sometimes (5–29%)
Constipation	Sometimes (5–29%)
Lactose intolerance	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Sometimes (5–29%)
Obesity	Sometimes (5–29%)
Overweight	Sometimes (5–29%)
Prenatal growth deficiency	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of vision	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Frequent urinary tract infections	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent chest infections	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Dry skin	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 SATB1 and how often each is seen. Find out more at hpo.jax.org.

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