Traits

Traits linked to COPB1

coat protein complex I subunit beta 1

The Human Phenotype Ontology links 24 traits to COPB1, 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 ability to walk	Always
Intellectual disability, severe	Always
Delayed speech and language development	Very often (80–99%)
Absent speech development	Often (30–79%)
Inability to walk	Often (30–79%)
Dystonia	Sometimes (5–29%)
Generalized brain degeneration	Sometimes (5–29%)
Migraine	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Often (30–79%)
Excessive hairiness	Often (30–79%)
Stretch marks	Often (30–79%)
Birthmark	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
High, narrow palate	Always
Upward slanting of the opening between the eyelids	Always
Abnormally small head	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone, in neonatal onset	Always
Hunched back	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Tapered finger	Always
Dropped arches	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Obesity	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 COPB1 and how often each is seen. Find out more at hpo.jax.org.

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