Traits

Traits linked to COPB2

coat protein complex I subunit beta 2

The Human Phenotype Ontology links 35 traits to COPB2, 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
Delayed CNS myelination	Always
Extra-axial cerebrospinal fluid accumulation	Always
Global developmental delay	Always
Severe global developmental delay	Always
Simplified gyral pattern	Always
Underdevelopment of part of brain called corpus callosum	Always
Ventriculomegaly	Always
Gray matter heterotopia	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Agenesis of corpus callosum	Often (30–79%)
Epilepsy	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
Inability to walk	Often (30–79%)
Increased reflexes	Often (30–79%)
Intellectual disability	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Underdeveloped frontal lobe	Often (30–79%)
Wide based walk	Often (30–79%)
Focal cortical dysplasia	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Sloping forehead	Very often (80–99%)
Thin red part of the upper lip	Very often (80–99%)
Upward slanting of the opening between the eyelids	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Osteopenia	Always
Abnormal cortical bone morphology	Often (30–79%)
Recurrent fractures	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Always
Faltering weight in infancy	Always
Growth delay	Very often (80–99%)
Short stature	Very often (80–99%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)

Abnormality of prenatal development or birth

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

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Always

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 COPB2 and how often each is seen. Find out more at hpo.jax.org.

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