Traits

Traits linked to CEP85L

centrosomal protein 85L

The Human Phenotype Ontology links 44 traits to CEP85L, 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
EEG abnormality	Always
Abnormal hippocampus morphology	Very often (80–99%)
Abnormality of the anterior commissure	Very often (80–99%)
Absent/small cerebellum	Very often (80–99%)
Fewer and broader ridges in brain	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Neurodevelopmental delay	Very often (80–99%)
Focal impaired awareness seizure	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Involuntary movements	Often (30–79%)
Posterior predominant subcortical band heterotopia	Often (30–79%)
Sudden loss of muscle tone	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Agyria	Sometimes (5–29%)
Atypical absence seizure	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Bilateral tonic-clonic seizure with focal onset	Sometimes (5–29%)
Bipolar disorder	Sometimes (5–29%)
Brief seizures with staring spells	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Generalized-onset seizure	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Hallucinations of sound	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Myoclonic seizure	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Suicidal ideation	Sometimes (5–29%)
Tonic seizure	Sometimes (5–29%)
Visual agnosia	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Facial asymmetry	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)
Mild microcephaly	Sometimes (5–29%)
Wry neck	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Cerebral visual impairment	Sometimes (5–29%)
Optic nerve hypoplasia	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Very often (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Hip dislocation	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Lack of bladder control due to nervous system injury	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 CEP85L and how often each is seen. Find out more at hpo.jax.org.

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