Traits

Traits linked to IRF2BPL

interferon regulatory factor 2 binding protein like

The Human Phenotype Ontology links 24 traits to IRF2BPL, 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
Epilepsy	Always
Intellectual disability	Always
Loss of ability to walk	Very often (80–99%)
Ataxia	Often (30–79%)
Dystonia	Often (30–79%)
Global developmental delay	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Babinski sign	Sometimes (5–29%)
Choreoathetosis	Sometimes (5–29%)
Corpus callosum atrophy	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Positive Romberg sign	Sometimes (5–29%)
Difficulty articulating speech	Not recorded
Lack of coordination of movement	Not recorded
Loss of speech	Not recorded

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Low muscle tone	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Weakness of facial musculature	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	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 IRF2BPL and how often each is seen. Find out more at hpo.jax.org.

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