Traits

Traits linked to TCF4

transcription factor 4

The Human Phenotype Ontology links 163 traits to TCF4, 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
Intellectual disability, severe	Always
Repetitive movements	Always
Absent speech development	Very often (80–99%)
Ataxia	Very often (80–99%)
Difficulty finding words	Very often (80–99%)
Difficulty sleeping	Very often (80–99%)
Echoing another person's speech	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Inability to speak	Very often (80–99%)
Intellectual disability	Very often (80–99%)
IQ between 34 and 49	Very often (80–99%)
Specific learning disability	Very often (80–99%)
Aplasia/Hypoplasia of the corpus callosum	Often (30–79%)
Epilepsy	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Pauses in breathing while sleeping	Often (30–79%)
Small cerebral cortex	Often (30–79%)
Small hippocampus	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Happy demeanor	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Encephalopathy	Rarely (1–4%)
Incoordination	Not recorded
Motor delay	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Abnormal biliary tract morphology	Very often (80–99%)
Constipation	Very often (80–99%)
Feeding difficulties	Very often (80–99%)
Inflammation of the esophagus	Very often (80–99%)
Slowed or blocked flow of bile from liver	Very often (80–99%)
Stomach hernia	Very often (80–99%)
Abnormal large intestine physiology	Often (30–79%)
Accumulation of fluid in the abdomen	Often (30–79%)
Enlarged liver	Often (30–79%)
Hepatic fibrosis	Often (30–79%)
Scar tissue replaces healthy tissue in the liver	Often (30–79%)
Ulcerative colitis	Often (30–79%)
Abdominal pain	Sometimes (5–29%)
Adenocarcinoma of the large intestine	Sometimes (5–29%)
Bile duct cancer	Sometimes (5–29%)
Celiac disease	Sometimes (5–29%)
Chronic liver failure	Sometimes (5–29%)
Gallstones	Sometimes (5–29%)
Hepatocellular carcinoma	Sometimes (5–29%)
Jaundice	Sometimes (5–29%)
Liver inflammation	Sometimes (5–29%)
Pancreatic inflammation	Sometimes (5–29%)
Acute liver failure	Rarely (1–4%)
Enlarged colon lacking nerve cells	Rarely (1–4%)
Neoplasm of the gallbladder	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Always
Deep philtrum	Always
Development of small head that was not present at birth	Always
Flared nostrils	Always
Sparse medial eyebrow	Always
Wide mouth	Always
Widely spaced teeth	Always
Abnormal dental position	Very often (80–99%)
Abnormality of the palate	Very often (80–99%)
Abnormally small head	Very often (80–99%)
Full cheeks	Very often (80–99%)
Full lips	Very often (80–99%)
Narrow forehead	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Overhanging nasal tip	Very often (80–99%)
Prominent nasal bridge	Very often (80–99%)
Short neck	Very often (80–99%)
Short philtrum	Very often (80–99%)
Unerupted adult teeth	Very often (80–99%)
Upward slanting of the opening between the eyelids	Very often (80–99%)
Triangular nasal tip	Often (30–79%)
Fetal nuchal edema	Sometimes (5–29%)
Open mouth	Not recorded
Wide nasal bridge	Not recorded

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Always
Small hand	Always
Broad fingertip	Very often (80–99%)
Curvature of finger	Very often (80–99%)
Pes valgus	Very often (80–99%)
Short long bone of foot	Very often (80–99%)
Single transverse palmar crease	Very often (80–99%)
Tapered finger	Very often (80–99%)
Narrow foot	Often (30–79%)
Palmar telangiectasia	Often (30–79%)
Prominent fingertip pads	Often (30–79%)
Short 5th long bone of foot	Often (30–79%)
Clubbing of fingers and toes	Sometimes (5–29%)
Overlapping toe	Sometimes (5–29%)
Short 4th long bone of foot	Sometimes (5–29%)
Short palm	Sometimes (5–29%)
Curvature of digit	Not recorded

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Always
Abnormal corneal endothelium morphology	Very often (80–99%)
Abnormal Descemet membrane morphology	Very often (80–99%)
Astigmatism	Very often (80–99%)
Close sighted	Very often (80–99%)
Corneal opacity	Very often (80–99%)
Decreased clarity of vision	Very often (80–99%)
Reduced number of corneal endothelial cells	Very often (80–99%)
Cross-eyed	Often (30–79%)
Difficulties with night vision	Often (30–79%)
Eye movement-induced pain	Often (30–79%)
Visual loss	Often (30–79%)
Uveitis	Rarely (1–4%)
Corneal guttata	Not recorded
Visual impairment	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Very often (80–99%)
Elevated alkaline phosphatase of hepatic origin	Often (30–79%)
Fever	Often (30–79%)
High liver enzymes	Often (30–79%)
Decreased circulating vitamin K concentration	Sometimes (5–29%)
Deficient in vitamin D	Sometimes (5–29%)
Fluid around lungs	Sometimes (5–29%)
Low albumin	Sometimes (5–29%)
Type 1 diabetes	Sometimes (5–29%)
Vitamin A deficiency	Sometimes (5–29%)
Vitamin E deficiency	Sometimes (5–29%)
Amyloid deposition	Not recorded
Corneal stromal edema	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Dilated superficial abdominal veins	Often (30–79%)
Enlarged liver and spleen	Often (30–79%)
Increased spleen size	Often (30–79%)
Portal hypertension	Often (30–79%)
Spider hemangioma	Often (30–79%)
Cardiac failure	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Persistent blue color of hands or feet	Often (30–79%)
Frontal upsweep of hair	Sometimes (5–29%)
Increased nail curvature	Sometimes (5–29%)
Itching	Sometimes (5–29%)
Patchy loss of skin color	Sometimes (5–29%)
Spinal dimple	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Scoliosis	Often (30–79%)
Diffuse skeletal muscle wasting	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Osteoporosis	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Prolonged prothrombin time	Sometimes (5–29%)
Hodgkin lymphoma	Rarely (1–4%)
Abnormal eosinophil morphology	Not recorded
Histiocytosis	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Growth delay	Very often (80–99%)
Weight loss	Often (30–79%)
Growth delay as children	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Thickened helices	Always
Abnormal helix morphology	Very often (80–99%)
Cupped ear	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Renal failure	Sometimes (5–29%)
Short penis	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Intermittent overbreathing	Very often (80–99%)
Abnormal pattern of respiration	Often (30–79%)
Rapid breathing	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Autoimmunity	Very often (80–99%)
Recurrent systemic pyogenic infections	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Polyclonal elevation of circulating IgM concentration	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Accessory nipple	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Thyroid gland inflammation	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	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 TCF4 and how often each is seen. Find out more at hpo.jax.org.

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