Traits

Traits linked to EN1

engrailed homeobox 1

The Human Phenotype Ontology links 20 traits to EN1, 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
Cerebellar agenesis	Always
Delayed speech and language development	Always
Focal tonic seizure	Always
Persistent head lag	Always
Small brainstem	Always

Abnormality of limbs

Trait	How often it is seen
Absent middle finger	Always
Fused toes	Always
Talar aplasia	Always
Triangular tibia	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Frequent urinary tract infections	Always
Hydronephrosis	Always
Lack of bladder control due to nervous system injury	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Generalized decreased muscle tone	Always
Low muscle tone	Always

Abnormality of the digestive system

Trait	How often it is seen
Gastrojejunal tube feeding in infancy	Always
Umbilical hernia	Always

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always

Abnormality of the immune system

Trait	How often it is seen
Bone infection	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Always

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 EN1 and how often each is seen. Find out more at hpo.jax.org.

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