Traits

Traits linked to ESS2

ess-2 spliceosome associated protein

The Human Phenotype Ontology links 38 traits to ESS2, 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
Velopharyngeal incompetence	Always
Submucous cleft hard palate	Often (30–79%)
Cleft palate	Sometimes (5–29%)
Abnormally small head	Not recorded
Bulbous nose	Not recorded
Narrow eyelid opening	Not recorded
Narrow opening between the eyelids	Not recorded
Open mouth	Not recorded
Pierre-Robin sequence	Not recorded
Receding chin	Not recorded
Underdeveloped tissue around nostril	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Double aortic arch	Sometimes (5–29%)
Interrupted aortic arch	Sometimes (5–29%)
Pulmonary artery atresia	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Not recorded
Retinal vascular tortuosity	Not recorded
Right aortic arch with mirror image branching	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Very often (80–99%)
Aggressive behavior	Not recorded
Can't control feelings	Not recorded
Paranoia	Not recorded
Specific learning disability	Not recorded

Abnormality of limbs

Trait	How often it is seen
Talipes	Sometimes (5–29%)
Abnormality of the hand	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Impaired T cell function	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormality of the ear	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased parathyroid hormone secretion	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Posterior embryotoxon	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Unilateral primary pulmonary dysgenesis	Not recorded

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Not recorded

Growth abnormality

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

Laboratory abnormality

Trait	How often it is seen
Low blood calcium levels	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 ESS2 and how often each is seen. Find out more at hpo.jax.org.

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