Traits

Traits linked to TCF20

transcription factor 20

The Human Phenotype Ontology links 48 traits to TCF20, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
Asymmetry of the posterior head	Not recorded
Broad head shape	Not recorded
Bulbous nose	Not recorded
Depressed nasal bridge	Not recorded
Downturned corners of mouth	Not recorded
Eye folds	Not recorded
Frontal bossing	Not recorded
High forehead	Not recorded
Long face	Not recorded
Midface retrusion	Not recorded
Open mouth	Not recorded
Short nose	Not recorded
Tented mouth	Not recorded
Thin red part of the upper lip	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Delayed speech and language development	Always
Intellectual disability, mild	Always
Motor delay	Always
Aggressive behavior	Often (30–79%)
Ataxia	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Epilepsy	Often (30–79%)
Repetitive movements	Often (30–79%)
Anxiety	Not recorded
Difficulty sleeping	Not recorded
Global developmental delay	Not recorded
Incoordination	Not recorded
More active than typical	Not recorded
Obsessive compulsive behavior	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Advanced bone age	Always
Low muscle tone	Always
Scoliosis	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Not recorded

Abnormality of limbs

Trait	How often it is seen
Gap between 1st and 2nd toes	Often (30–79%)
Curvature of little finger	Not recorded
Tapered finger	Not recorded

Abnormality of the eye

Trait	How often it is seen
Close sighted	Not recorded
Cross-eyed	Not recorded
Deeply set eye	Not recorded

Abnormality of the breast

Trait	How often it is seen
Inverted nipples	Always
Enlarged male breast	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Not recorded
Feeding difficulties	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Not recorded
Low-set ears	Not recorded

Growth abnormality

Trait	How often it is seen
Tall stature	Always
Obesity	Rarely (1–4%)

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 TCF20 and how often each is seen. Find out more at hpo.jax.org.

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