Traits

Traits linked to TFE3

transcription factor binding to IGHM enhancer 3

The Human Phenotype Ontology links 62 traits to TFE3, 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
Absent speech development	Always
Difficulty sleeping	Always
Global developmental delay	Always
Intellectual disability	Always
Intellectual disability, severe	Always
Repetitive movements	Always
Epilepsy	Very often (80–99%)
Aggressive behavior	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
EEG with central focal spikes	Often (30–79%)
EEG with occipital focal spikes	Often (30–79%)
EEG with parietal focal spikes	Often (30–79%)
Multifocal seizures	Often (30–79%)
Short attention span	Often (30–79%)
Loss of developmental milestones	Sometimes (5–29%)
Delayed speech and language development	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Drooping lower lip	Always
Coarse facial features	Very often (80–99%)
Big calvaria	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Eye folds	Often (30–79%)
Full cheeks	Often (30–79%)
Full lips	Often (30–79%)
Monobrow	Often (30–79%)
Open mouth	Often (30–79%)
Zygomatic flattening	Often (30–79%)
Cleft lip	Sometimes (5–29%)
Cleft nasal bridge	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Broad shaft of long bone	Often (30–79%)
Dropped arches	Often (30–79%)
Tapered finger	Often (30–79%)
Wide long bones of hand	Often (30–79%)
Club feet	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Limited elbow extension	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Close sighted	Often (30–79%)
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Lazy eye	Often (30–79%)
Myopic astigmatism	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Gallstones	Always
Chronic constipation	Often (30–79%)
Enlarged liver	Often (30–79%)
Gallbladder inflammation	Often (30–79%)
Umbilical hernia	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Broad ribs	Often (30–79%)
Prominent swayback	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Always
Ears rotated toward back of head	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Patchy lightened skin	Very often (80–99%)
Darkened and thickened skin	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Cancer starting in small tubes in kidneys	Not recorded

Growth abnormality

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

Laboratory abnormality

Trait	How often it is seen
Low blood sugar	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 TFE3 and how often each is seen. Find out more at hpo.jax.org.

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