Traits

Traits linked to BCAP31

B cell receptor associated protein 31

The Human Phenotype Ontology links 36 traits to BCAP31, 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
Abnormal pyramidal sign	Always
Cerebral hypomyelination	Always
Dystonia	Always
Global developmental delay	Always
Intellectual disability, severe	Always
Paralysis of all four limbs	Very often (80–99%)
Abnormal cerebral white matter morphology	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Epilepsy	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Brain degeneration	Sometimes (5–29%)
Cerebral white matter atrophy	Sometimes (5–29%)
CNS hypomyelination	Sometimes (5–29%)
Corpus callosum atrophy	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Abnormal facial shape	Very often (80–99%)
Little lower jaw	Sometimes (5–29%)
Short nose	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Very often (80–99%)
Optic atrophy	Often (30–79%)
Abnormality of eye movement	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Episodic fever	Often (30–79%)
Increased circulating very long-chain fatty acid concentration	Often (30–79%)
High liver enzymes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Slowed or blocked flow of bile from liver	Very often (80–99%)
Bile duct inflammation	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always
Hearing impairment	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Prenatal growth deficiency	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Small adrenal glands	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 BCAP31 and how often each is seen. Find out more at hpo.jax.org.

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