Traits

Traits linked to GEMIN5

gem nuclear organelle associated protein 5

The Human Phenotype Ontology links 10 traits to GEMIN5, 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
Degeneration of cerebellum	Always
Global developmental delay	Always
Motor delay	Always
Delayed speech and language development	Very often (80–99%)
Ataxia	Often (30–79%)
Brisk reflexes	Often (30–79%)
Absent reflexes	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Appendicular hypotonia	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 GEMIN5 and how often each is seen. Find out more at hpo.jax.org.

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