Traits

Traits linked to CTNNB1

catenin beta 1

The Human Phenotype Ontology links 249 traits to CTNNB1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Abnormal shape of hypothalamus	Always
Global developmental delay	Always
Intellectual disability	Always
Underdevelopment of part of brain called corpus callosum	Always
Intracranial cystic lesion	Very often (80–99%)
Motor delay	Very often (80–99%)
Poor speech	Very often (80–99%)
Anxiety	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Delayed ability to sit	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Excessive daytime sleepiness	Often (30–79%)
Headache	Often (30–79%)
Irritability	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Panic attack	Often (30–79%)
Abnormal temper tantrums	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Delayed ability to crawl	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
Difficulty finding words	Sometimes (5–29%)
Echoing another person's speech	Sometimes (5–29%)
Fluid-filled cyst in spinal cord	Sometimes (5–29%)
Inability to speak	Sometimes (5–29%)
Increased appetite	Sometimes (5–29%)
Intellectual disability, mild	Sometimes (5–29%)
Mild global developmental delay	Sometimes (5–29%)
Pauses in breathing while sleeping	Sometimes (5–29%)
Restlessness	Sometimes (5–29%)
Rise in pressure inside skull	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Self-mutilation	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)
Spina bifida occulta	Sometimes (5–29%)
Tethered cord	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Coma	Rarely (1–4%)
Epilepsy	Rarely (1–4%)
Medulloblastoma	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Broad nasal tip	Always
Small head present at birth	Always
Abnormal dentition	Very often (80–99%)
Abnormal facial shape	Very often (80–99%)
Abnormal oral frenulum morphology	Very often (80–99%)
Abnormally small head	Very often (80–99%)
Cone shaped tooth	Very often (80–99%)
Early eruption of teeth	Very often (80–99%)
Enlargement of facial bones	Very often (80–99%)
Failure of development of between one and six teeth	Very often (80–99%)
Increased thickness of skull cap	Very often (80–99%)
Only one upper front tooth	Very often (80–99%)
Bifid uvula	Often (30–79%)
Big calvaria	Often (30–79%)
Cleft of the face	Often (30–79%)
Cleft palate	Often (30–79%)
Delayed cranial suture closure	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Flat back of skull	Often (30–79%)
Frontal bossing	Often (30–79%)
High, narrow palate	Often (30–79%)
Prominent forehead	Often (30–79%)
Submucous cleft hard palate	Often (30–79%)
Wide fontanelles	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Bell's palsy	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Flat face	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Low hanging columella	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Underdeveloped tissue around nostril	Sometimes (5–29%)
Abnormality of the bone of the forehead	Rarely (1–4%)
Abnormality of the nasal bone	Rarely (1–4%)
High palate	Not recorded

Abnormality of the eye

Trait	How often it is seen
Vitreoretinopathy	Always
Abnormal optic disc morphology	Often (30–79%)
Abnormal retinal pigmentation	Often (30–79%)
Abnormal visual field test	Often (30–79%)
Abnormality of the eye	Often (30–79%)
Bitemporal hemianopia	Often (30–79%)
Decreased clarity of vision	Often (30–79%)
Falciform retinal fold	Often (30–79%)
Papilledema	Often (30–79%)
Progressive visual field defects	Often (30–79%)
Slow decrease in sharpness of vision	Often (30–79%)
Subretinal fluid	Often (30–79%)
Tractional retinal detachment	Often (30–79%)
Abnormally small eyeball	Sometimes (5–29%)
Blindness	Sometimes (5–29%)
Chorioretinal atrophy	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Epiretinal membrane	Sometimes (5–29%)
Eye floaters	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Macular edema	Sometimes (5–29%)
Marked vision impairment	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Rhegmatogenous retinal detachment	Sometimes (5–29%)
Exudative vitreoretinopathy	Rarely (1–4%)
Sudden decrease in vision	Rarely (1–4%)
Involuntary, rapid, rhythmic eye movements	Not recorded
Retina degeneration	Not recorded
Retinal detachment	Not recorded
Retinal fold	Not recorded
Retinal hole	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Adrenocortical carcinoma	Always
Enlarged pituitary gland	Very often (80–99%)
Hypopituitarism	Very often (80–99%)
Neoplasm of the anterior pituitary	Very often (80–99%)
Abnormal circulating dehydroepiandrosterone concentration	Often (30–79%)
Adrenocorticotropic hormone deficiency	Often (30–79%)
Central adrenal insufficiency	Often (30–79%)
Central diabetes insipidus	Often (30–79%)
Decreased activity of gonads	Often (30–79%)
Elevated plasma aldosterone	Often (30–79%)
Elevated serum 11-deoxycortisol	Often (30–79%)
Hypogonadotropic hypogonadism	Often (30–79%)
Increased circulating androgen concentration	Often (30–79%)
Increased circulating androstenedione concentration	Often (30–79%)
Increased circulating cortisol level	Often (30–79%)
Increased circulating prolactin concentration	Often (30–79%)
Increased serum estradiol	Often (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Often (30–79%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Often (30–79%)
Delayed puberty	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal deposits of calcium in the brain	Very often (80–99%)
Harder, denser, fracture-prone bones	Very often (80–99%)
High iliac wing	Very often (80–99%)
Increased bone mineral density	Very often (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Very often (80–99%)
Large iliac wing	Very often (80–99%)
Low muscle tone in trunk	Very often (80–99%)
Muscular abnormality	Very often (80–99%)
Low muscle tone	Often (30–79%)
Muscle weakness	Often (30–79%)
Scoliosis	Often (30–79%)
Asymmetric chest	Sometimes (5–29%)
Breakdown of bone	Sometimes (5–29%)
Ectopic calcification	Sometimes (5–29%)
Increased susceptibility to fractures	Sometimes (5–29%)
Limitation of joint mobility	Sometimes (5–29%)
Low solidness and mass of the bones	Sometimes (5–29%)
Progressive spasticity	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Spastic diplegia	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Very often (80–99%)
Abnormality of the abdominal wall	Very often (80–99%)
Enlarged liver	Very often (80–99%)
Gastrointestinal desmoid tumor	Very often (80–99%)
Hepatic fibrosis	Very often (80–99%)
Feeding difficulties	Often (30–79%)
Growths in inner lining of intestine	Often (30–79%)
Hepatic necrosis	Often (30–79%)
Malabsorption	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Vomiting	Often (30–79%)
Intestinal obstruction	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)
Colon cancer	Not recorded
Hepatocellular carcinoma	Not recorded
Hereditary nonpolyposis colorectal carcinoma	Not recorded
Micronodular cirrhosis	Not recorded
Stomach tumor	Not recorded
Subacute progressive viral hepatitis	Not recorded

Abnormality of the integument

Trait	How often it is seen
Pilomatrixoma	Always
Abnormal fingernails	Very often (80–99%)
Abnormal toenail development	Very often (80–99%)
Abnormality of the toenail	Very often (80–99%)
Firm lump under the skin	Very often (80–99%)
Poor nail formation	Very often (80–99%)
Small nail	Very often (80–99%)
Underdeveloped toenails	Very often (80–99%)
Excessive hair growth	Often (30–79%)
Excessive sweating	Often (30–79%)
Stretch marks	Often (30–79%)
Skin cancer	Sometimes (5–29%)
Itching	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Avascular peripheral retina	Very often (80–99%)
High blood pressure	Often (30–79%)
Palpitations	Often (30–79%)
Retinal neovascularization	Often (30–79%)
Disruption of blood oxygen supply to brain	Sometimes (5–29%)
Macular exudate	Sometimes (5–29%)
Macular telangiectasia	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)
Narrowing of aortic valve	Sometimes (5–29%)
Heart attack	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Mild short stature	Very often (80–99%)
Increased body weight	Often (30–79%)
Obesity	Often (30–79%)
Weight loss	Often (30–79%)
Growth delay	Sometimes (5–29%)
Proportionate short stature	Sometimes (5–29%)
Severe short stature	Sometimes (5–29%)
Small for gestational age	Sometimes (5–29%)
Growth delay as children	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of reproductive system physiology	Often (30–79%)
Abnormality of the upper urinary tract	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Cancer starting in small tubes in kidneys	Not recorded
Dysgerminoma	Not recorded
Ovarian papillary adenocarcinoma	Not recorded
Transitional cell carcinoma of the bladder	Not recorded
Uterine leiomyosarcoma	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated circulating alpha-fetoprotein concentration	Very often (80–99%)
Diabetes mellitus	Often (30–79%)
High urine cortisol level	Often (30–79%)
Laboratory abnormality	Often (30–79%)
Low blood potassium levels	Often (30–79%)
Noninsulin-dependent diabetes	Sometimes (5–29%)
Pee issues	Sometimes (5–29%)
Swelling caused by excess lymph fluid under skin	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of a long bone	Very often (80–99%)
Coarse metaphyseal trabecularization	Very often (80–99%)
Extra little finger	Very often (80–99%)
Curvature of little finger	Often (30–79%)
Overlapping fingers	Often (30–79%)
Small hand	Often (30–79%)
Broad finger	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormal antihelix morphology	Often (30–79%)
Conductive deafness	Often (30–79%)
Ears rotated toward back of head	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Dizziness	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Epigastric pain	Often (30–79%)
Fatigue	Often (30–79%)
Muscle ache	Often (30–79%)
Chest pain	Sometimes (5–29%)
Joint pain	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Blood clot in portal vein	Often (30–79%)
Gastrointestinal bleeding	Sometimes (5–29%)
Vitreous hemorrhage	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Infection in blood stream	Sometimes (5–29%)
Anti-myeloperoxidase antibody positivity	Rarely (1–4%)
Recurrent infections	Rarely (1–4%)

Abnormal tissue mass

Trait	How often it is seen
Fibroma	Very often (80–99%)
Head and neck tumor	Very often (80–99%)

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Lung adenocarcinoma	Often (30–79%)

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 CTNNB1 and how often each is seen. Find out more at hpo.jax.org.

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