Traits

Traits linked to APC2

APC regulator of Wnt signaling pathway 2

The Human Phenotype Ontology links 134 traits to APC2, by body system: features seen in people with one of the gene's rare conditions.

APC2

Abnormality of the nervous system

Trait	How often it is seen
Delayed fine motor development	Always
Delayed motor skills	Always
Delayed social development	Always
Delayed speech and language development	Always
EEG with polyspike wave complexes	Always
Epilepsy	Always
Fewer or absent grooves in brain	Always
Global developmental delay	Always
Intellectual disability	Always
Intellectual disability, severe	Always
More active than typical	Always
Poor speech	Always
Ventriculomegaly	Always
Generalized-onset seizure	Very often (80–99%)
Myoclonic seizure	Very often (80–99%)
Underdevelopment of part of brain called corpus callosum	Very often (80–99%)
Behavioral abnormality	Often (30–79%)
Brain imaging abnormality	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Periventricular ribbonlike heterotopia	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Brief seizures with staring spells	Sometimes (5–29%)
Cavum septum pellucidum	Sometimes (5–29%)
Cerebellar vermis hypoplasia	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Difficulty making arithmetical calculations	Sometimes (5–29%)
Focal impaired awareness seizure	Sometimes (5–29%)
Generalized myoclonic seizure	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Hypoplasia of the pons	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Incoordination	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)
Small brainstem	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Astrocytoma	Rarely (1–4%)
Attention deficit	Rarely (1–4%)
Cancer of early nerve cells	Rarely (1–4%)
Thick cerebral cortex	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
Big lower jaw	Always
Long face	Always
Long, narrow head	Always
Narrow palate	Always
Prominent nose	Always
Relatively large head	Always
Wide nasal bridge	Always
Coarse facial features	Very often (80–99%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Increased head circumference	Often (30–79%)
Narrow face	Often (30–79%)
Prominent forehead	Often (30–79%)
Sparse scalp hair at front of head	Often (30–79%)
Tall chin	Often (30–79%)
Abnormal dentition	Sometimes (5–29%)
Enlarged cisterna magna	Sometimes (5–29%)
Absence of adult teeth	Rarely (1–4%)
Deformity of the skull	Rarely (1–4%)
Delayed eruption of permanent teeth	Rarely (1–4%)
Failure of development of between one and six teeth	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the kidney	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)
Absent kidney	Rarely (1–4%)
Congenital posterior urethral valve	Rarely (1–4%)
Decreased fertility	Rarely (1–4%)
Double ureter	Rarely (1–4%)
Hydrocele testis	Rarely (1–4%)
Hydronephrosis	Rarely (1–4%)
Hypospadias	Rarely (1–4%)
Phimosis	Rarely (1–4%)
Sacrococcygeal teratoma	Rarely (1–4%)
Undescended testes	Rarely (1–4%)
Ureteropelvic junction obstruction	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Short fingers or toes	Always
Increased arm span	Very often (80–99%)
Dropped arches	Sometimes (5–29%)
Fluid accumulation in lower limbs	Sometimes (5–29%)
Large hands	Sometimes (5–29%)
Ankle flexion contracture	Rarely (1–4%)
Bilateral camptodactyly	Rarely (1–4%)
Club feet	Rarely (1–4%)
Hip contracture	Rarely (1–4%)
Webbed 2nd and 3rd toes	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Advanced bone age	Often (30–79%)
Double-Jointed	Often (30–79%)
Scoliosis	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Spastic tetraplegia	Sometimes (5–29%)
Abnormal vertebral morphology	Rarely (1–4%)
Funnel chest	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Often (30–79%)
Feeding difficulties	Often (30–79%)
Prolonged yellowing of skin in newborn	Often (30–79%)
Acid reflux	Sometimes (5–29%)
Enlarged colon lacking nerve cells	Rarely (1–4%)
Inguinal hernia	Rarely (1–4%)
Umbilical hernia	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Bulge in wall of large artery that carries blood away from heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Strawberry mark	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Astigmatism	Often (30–79%)
Close sighted	Rarely (1–4%)
Clouding of the lens of the eye	Rarely (1–4%)
Cross-eyed	Rarely (1–4%)
Farsightedness	Rarely (1–4%)
Involuntary, rapid, rhythmic eye movements	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Chronic infections of the middle ear	Often (30–79%)
Hearing impairment	Often (30–79%)
Cholesteatoma	Rarely (1–4%)
Conductive deafness	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Flushing	Often (30–79%)
Patchy darkened skin	Rarely (1–4%)
Patchy lightened skin	Rarely (1–4%)
Small nail	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Pulmonary bleb	Rarely (1–4%)
Small cell lung carcinoma	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
High blood calcium levels	Rarely (1–4%)
Low blood sugar in newborn	Rarely (1–4%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acute lymphoblastic leukemia	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Tall stature	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 APC2 and how often each is seen. Find out more at hpo.jax.org.

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