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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

TraitKui sageli seda täheldatakse
Abnormal pyramidal signAlati
Cerebral hypomyelinationAlati
DystoniaAlati
Global developmental delayAlati
Intellectual disability, severeAlati
Paralysis of all four limbsVäga sageli (80–99%)
Abnormal cerebral white matter morphologySageli (30–79%)
Degeneration of cerebellumSageli (30–79%)
Degeneration of cerebrumSageli (30–79%)
EpilepsySageli (30–79%)
Aggressive behaviorMõnikord (5–29%)
Brain degenerationMõnikord (5–29%)
Cerebral white matter atrophyMõnikord (5–29%)
CNS hypomyelinationMõnikord (5–29%)
Corpus callosum atrophyMõnikord (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cellsMõnikord (5–29%)
More active than typicalMõnikord (5–29%)
VentriculomegalyMõnikord (5–29%)

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Abnormally small headAlati
Abnormal facial shapeVäga sageli (80–99%)
Little lower jawMõnikord (5–29%)
Short noseMõnikord (5–29%)

Abnormality of the eye

TraitKui sageli seda täheldatakse
Cross-eyedVäga sageli (80–99%)
Optic atrophySageli (30–79%)
Abnormality of eye movementMõnikord (5–29%)
Clouding of the lens of the eyeMõnikord (5–29%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Episodic feverSageli (30–79%)
Increased circulating very long-chain fatty acid concentrationSageli (30–79%)
High liver enzymesMõnikord (5–29%)

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Slowed or blocked flow of bile from liverVäga sageli (80–99%)
Bile duct inflammationSageli (30–79%)

Abnormality of the ear

TraitKui sageli seda täheldatakse
Sensorineural hearing impairmentAlati
Hearing impairmentVäga sageli (80–99%)

Growth abnormality

TraitKui sageli seda täheldatakse
Faltering weightAlati
Prenatal growth deficiencySageli (30–79%)

Abnormality of the endocrine system

TraitKui sageli seda täheldatakse
Small adrenal glandsMõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • 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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