Traits

Traits linked to CP

ceruloplasmin

The Human Phenotype Ontology links 46 traits to CP, 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
Abnormality of the nervous system	Very often (80–99%)
Ataxia	Often (30–79%)
Chorea	Often (30–79%)
Cognitive impairment	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Dystonia	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Involuntary movements	Often (30–79%)
Limb ataxia	Often (30–79%)
Abnormal corpus striatum morphology	Sometimes (5–29%)
Abnormal craniofacial muscle tone	Sometimes (5–29%)
Abnormal dentate nucleus morphology	Sometimes (5–29%)
Abnormal thalamic MRI signal intensity	Sometimes (5–29%)
Akinesia	Sometimes (5–29%)
Iron accumulation in brain	Sometimes (5–29%)
Lack of feeling, emotion, interest	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Parkinsonism	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Abnormality of extrapyramidal motor function	Not recorded
Dementia	Not recorded
Explosive speech	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating enzyme concentration or activity	Very often (80–99%)
Aceruloplasminemia	Very often (80–99%)
Elevated serum ferritin	Very often (80–99%)
Copper deficiency	Often (30–79%)
Decreased circulating iron concentration	Often (30–79%)
Decreased serum ceruloplasmin	Often (30–79%)
Diabetes mellitus	Often (30–79%)
Increased iron concentration in liver	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Abnormal retinal pigmentation	Often (30–79%)
Macular degeneration	Often (30–79%)
Retina degeneration	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Hypochromic microcytic anemia	Very often (80–99%)
Refractory anemia	Very often (80–99%)
Low number of red blood cells or hemoglobin	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Eyelid spasm	Sometimes (5–29%)
Facial grimacing	Sometimes (5–29%)
Wry neck	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormally shaped pancreas	Sometimes (5–29%)
Hepatic fibrosis	Not recorded
Scar tissue replaces healthy tissue in the liver	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Rigidity	Sometimes (5–29%)
Cogwheel rigidity	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac failure	Sometimes (5–29%)

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 CP and how often each is seen. Find out more at hpo.jax.org.

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