Traits

Traits linked to GEMIN4

gem nuclear organelle associated protein 4

The Human Phenotype Ontology links 36 traits to GEMIN4, 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
Epilepsy	Always
Severe global developmental delay	Always
Absent speech development	Often (30–79%)
Brain degeneration	Often (30–79%)
Decreased reflex response	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Inability to walk	Often (30–79%)
Inferior cerebellar vermis hypoplasia	Often (30–79%)
Persistent head lag	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal development of end part of bone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Low muscle tone	Often (30–79%)
Osteopenia	Often (30–79%)
Poor head control	Often (30–79%)
Calcium buildup in soft tissues of body	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal urinary amino-acid findings	Often (30–79%)
Low blood calcium levels	Often (30–79%)
Low blood potassium levels	Often (30–79%)
Low blood sodium levels	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Often (30–79%)
Increased spleen size	Often (30–79%)
Narrowing of kidney artery	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Feeding difficulties	Often (30–79%)
Poor swallowing	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Often (30–79%)
Increased calcium level in kidney	Often (30–79%)
Small kidneys	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Always
Optic atrophy	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Dislocated hip since birth	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent chest infections	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	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 GEMIN4 and how often each is seen. Find out more at hpo.jax.org.

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