Traits

Traits linked to FCSK

fucose kinase

The Human Phenotype Ontology links 23 traits to FCSK, 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
Global developmental delay	Always
Inability to walk	Always
Intellectual disability, severe	Always
Agenesis of corpus callosum	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Epileptic encephalopathy	Often (30–79%)
Periventricular leukomalacia	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Visual impairment	Always
Cerebral visual impairment	Often (30–79%)
Cross-eyed	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Optic atrophy	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Joint contracture	Always
Low muscle tone	Always
Appendicular spasticity	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Acid reflux	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)

Abnormality of the immune system

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

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated gamma-glutamyltransferase level	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 FCSK and how often each is seen. Find out more at hpo.jax.org.

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