Traits

Traits linked to ACTB

actin beta

The Human Phenotype Ontology links 151 traits to ACTB, by body system: features seen in people with one of the gene's rare conditions.

ACTB

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Always
Cleft upper lip	Always
High forehead	Always
Prominent metopic ridge	Always
Thin red part of the upper lip	Always
Abnormally large tongue	Very often (80–99%)
Broad nasal tip	Very often (80–99%)
Broad opening between the eyelids	Very often (80–99%)
Cleft of the mouth	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Corners of eye widely separated	Very often (80–99%)
Decreased volume of lip	Very often (80–99%)
Depressed nasal tip	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Euryblepharon	Very often (80–99%)
Eye folds	Very often (80–99%)
Full cheeks	Very often (80–99%)
Highly arched eyebrow	Very often (80–99%)
Horizontal eyebrow	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long philtrum	Very often (80–99%)
Pointed chin	Very often (80–99%)
Receding chin	Very often (80–99%)
Short columella	Very often (80–99%)
Wide mouth	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Wide nose	Very often (80–99%)
Abnormally small head	Often (30–79%)
Broad eyebrow	Often (30–79%)
Delayed cranial suture closure	Often (30–79%)
Long nose	Often (30–79%)
Low hairline at back of neck	Often (30–79%)
Monobrow	Often (30–79%)
Prominent nose	Often (30–79%)
Short neck	Often (30–79%)
Triangular head shape	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Wide fontanelles	Often (30–79%)
Big lower jaw	Sometimes (5–29%)
Bulbous nose	Sometimes (5–29%)
Fullness of eyelids	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Long eyelashes	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)
Webbed neck	Sometimes (5–29%)
Nasal tip, upturned	Not recorded
Short nose	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Difficulty articulating speech	Always
Generalized dystonia	Always
Gray matter heterotopia	Always
Intellectual disability, mild	Always
Leg dystonia	Always
Loss of ability to walk	Always
Mild global developmental delay	Always
Motor delay	Always
Oculogyric crisis	Always
Difficulty finding words	Very often (80–99%)
Echoing another person's speech	Very often (80–99%)
Epilepsy	Very often (80–99%)
Fewer and broader ridges in brain	Very often (80–99%)
Fewer or absent grooves in brain	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Inability to speak	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Mental deterioration	Very often (80–99%)
More grooves in brain	Very often (80–99%)
Specific learning disability	Very often (80–99%)
Cerebral cortical hemiatrophy	Often (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Often (30–79%)
Subcortical cerebral atrophy	Often (30–79%)
Spina bifida occulta	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Agenesis of corpus callosum	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Kyphoscoliosis	Always
Small shoulder blade	Always
Abnormal skeletal development	Very often (80–99%)
Hunched back	Very often (80–99%)
Loss of fat tissue in localized area	Very often (80–99%)
Osteochondrosis	Very often (80–99%)
Scoliosis	Very often (80–99%)
Funnel chest	Often (30–79%)
Joint stiffness	Often (30–79%)
Pigeon chest	Often (30–79%)
Extra ribs	Sometimes (5–29%)
Rib fusion	Sometimes (5–29%)
Cervical ribs	Not recorded
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded
Missing part of vertebrae	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cat eye	Very often (80–99%)
Drooping upper eyelid	Very often (80–99%)
Wide-set eyes	Very often (80–99%)
Blindness	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Deeply set eye	Often (30–79%)
Different colored eyes	Often (30–79%)
Retinoschisis	Often (30–79%)
Abnormally small eyeball	Sometimes (5–29%)
Cornea of eye less than 10mm in diameter	Sometimes (5–29%)
Optic disc coloboma	Sometimes (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Not recorded

Abnormality of limbs

Trait	How often it is seen
Asymmetric overgrowth	Always
Externally rotated hips	Always
Shoulder girdle muscle wasting	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Abnormality of the shankbone	Sometimes (5–29%)
Duplication of big toe bone	Sometimes (5–29%)
Duplication of thumb phalanx	Sometimes (5–29%)
Left and right leg differ in length or width	Sometimes (5–29%)
Overlapping toe	Sometimes (5–29%)
Unequal size of arms	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the upper urinary tract	Often (30–79%)
Hydronephrosis	Often (30–79%)
Hydroureter	Often (30–79%)
Abnormal scrotum morphology	Sometimes (5–29%)
Underdeveloped inner lips	Sometimes (5–29%)
Short penis	Not recorded
Undescended testes	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always
Ears rotated toward back of head	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Overfolded ears	Sometimes (5–29%)
Small ears	Sometimes (5–29%)
Low-set ears	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Ventricular arrhythmia	Always
Mini stroke	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Not recorded
Narrowing of aortic valve	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Achalasia	Always
Poor swallowing	Always
Pseudobulbar paralysis	Always
Feeding difficulties	Very often (80–99%)
Umbilical hernia	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Small for gestational age	Always
Faltering weight	Very often (80–99%)
Growth delay	Very often (80–99%)
Short stature	Very often (80–99%)
Growth delay as children	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Large platelets	Always
Low platelet count	Always
Platelet anisocytosis	Always

Abnormality of the breast

Trait	How often it is seen
Accessory nipple	Very often (80–99%)
Absent/small breasts	Often (30–79%)
One underdeveloped breast	Not recorded

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Always
Hyperpigmented skin patches	Very often (80–99%)
Mole	Not recorded

Abnormal tissue mass

Trait	How often it is seen
Hamartoma	Always

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Always

Abnormality of the immune system

Trait	How often it is seen
Decreased immune function	Very often (80–99%)

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

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