Traits

Traits linked to CEP126

centrosomal protein 126

The Human Phenotype Ontology links 10 traits to CEP126, 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 peripheral nerve conduction	Often (30–79%)
Degeneration of anterior horn cells	Often (30–79%)
Abnormality of movement	Sometimes (5–29%)
Muscle twitch	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the upper limb	Very often (80–99%)
Distal upper limb amyotrophy	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG abnormality	Very often (80–99%)
Muscle weakness	Very often (80–99%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of the immune system	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 CEP126 and how often each is seen. Find out more at hpo.jax.org.

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