Traits

Traits linked to UBR7

ubiquitin protein ligase E3 component n-recognin 7

The Human Phenotype Ontology links 25 traits to UBR7, by body system: features seen in people with one of the gene's rare conditions.

UBR7

Abnormality of head or neck

Trait	How often it is seen
Downward slanting of the opening between the eyelids	Often (30–79%)
Prominent forehead	Often (30–79%)
Corners of eye widely separated	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Epilepsy	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Single transverse palmar crease	Sometimes (5–29%)
Small kneecap	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Often (30–79%)
Wide-set eyes	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Very often (80–99%)
Short penis	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Gastrointestinal dysmotility	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

Abnormality of the endocrine system

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

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)

Constitutional symptom

Trait	How often it is seen
Sudden unexpected death in epilepsy	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	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 UBR7 and how often each is seen. Find out more at hpo.jax.org.

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