Traits

Traits linked to EXOSC1

exosome component 1

The Human Phenotype Ontology links 20 traits to EXOSC1, 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
Abnormally small head	Always
Corners of eye widely separated	Always
Depressed nasal bridge	Always
Full lips	Always
High forehead	Always
Long philtrum	Always
Nasal tip, upturned	Always
Receding chin	Always
Smooth philtrum	Always

Abnormality of the nervous system

Trait	How often it is seen
Decreased reflex response	Always
Degeneration of cerebrum	Always
Delayed CNS myelination	Always
Global developmental delay	Always
Hypoplasia of the pons	Always
Small cerebellum	Always
Underdevelopment of part of brain called corpus callosum	Always

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Always
Cross-eyed	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always

Growth abnormality

Trait	How often it is seen
Growth delay	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 EXOSC1 and how often each is seen. Find out more at hpo.jax.org.

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