Traits

Traits linked to IER3IP1

immediate early response 3 interacting protein 1

The Human Phenotype Ontology links 40 traits to IER3IP1, 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
Global developmental delay	Always
Grand mal seizures	Always
Hypsarrhythmia	Always
Simplified gyral pattern	Always
Bilateral tonic-clonic seizure with focal onset	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
EEG with burst suppression	Often (30–79%)
Generalized myoclonic seizure	Often (30–79%)
Generalized-onset seizure	Often (30–79%)
Myoclonic seizure	Often (30–79%)
Small cerebellum	Sometimes (5–29%)
Brisk reflexes	Not recorded
Epilepsy	Not recorded
IQ less than 20	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Small head present at birth	Always
Gum enlargement	Sometimes (5–29%)
Full cheeks	Not recorded
High palate	Not recorded
Narrow forehead	Not recorded
Nasal tip, upturned	Not recorded
Tented mouth	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Osteopenia	Sometimes (5–29%)
Spontaneous fracture	Sometimes (5–29%)
Low muscle tone in trunk	Not recorded
Low muscle tone, in neonatal onset	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Smaller than typical growth of scrotum	Sometimes (5–29%)
Underdevelopment of external reproductive organs	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Always
High liver enzymes	Sometimes (5–29%)
High urine albumin levels	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Sometimes (5–29%)
Drooping upper eyelid	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Not recorded

Growth abnormality

Trait	How often it is seen
Obesity	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 IER3IP1 and how often each is seen. Find out more at hpo.jax.org.

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