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	Cât de frecvent apare
Abnormal pyramidal sign	Întotdeauna
Cerebral hypomyelination	Întotdeauna
Dystonia	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability, severe	Întotdeauna
Paralysis of all four limbs	Foarte des (80–99%)
Abnormal cerebral white matter morphology	Des (30–79%)
Degeneration of cerebellum	Des (30–79%)
Degeneration of cerebrum	Des (30–79%)
Epilepsy	Des (30–79%)
Aggressive behavior	Uneori (5–29%)
Brain degeneration	Uneori (5–29%)
Cerebral white matter atrophy	Uneori (5–29%)
CNS hypomyelination	Uneori (5–29%)
Corpus callosum atrophy	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Abnormally small head	Întotdeauna
Abnormal facial shape	Foarte des (80–99%)
Little lower jaw	Uneori (5–29%)
Short nose	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Cross-eyed	Foarte des (80–99%)
Optic atrophy	Des (30–79%)
Abnormality of eye movement	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
Episodic fever	Des (30–79%)
Increased circulating very long-chain fatty acid concentration	Des (30–79%)
High liver enzymes	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Slowed or blocked flow of bile from liver	Foarte des (80–99%)
Bile duct inflammation	Des (30–79%)

Abnormality of the ear

Trait	Cât de frecvent apare
Sensorineural hearing impairment	Întotdeauna
Hearing impairment	Foarte des (80–99%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Întotdeauna
Prenatal growth deficiency	Des (30–79%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Small adrenal glands	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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