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Traits

Traits linked to BCKDK

branched chain keto acid dehydrogenase kinase

The Human Phenotype Ontology links 49 traits to BCKDK, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Global developmental delayAlati
Intellectual disabilityAlati
Language impairmentAlati
Motor delayAlati
Simple febrile seizureAlati
Autism spectrum disorderVäga sageli (80–99%)
ClumsinessVäga sageli (80–99%)
Intellectual disability, severeVäga sageli (80–99%)
Aggressive behaviorSageli (30–79%)
AutismSageli (30–79%)
EpilepsySageli (30–79%)
Generalized-onset seizureSageli (30–79%)
Increased reflexesSageli (30–79%)
Interictal epileptiform activitySageli (30–79%)
Loss of developmental milestonesSageli (30–79%)
AtaxiaMõnikord (5–29%)
Attention deficitMõnikord (5–29%)
DystoniaMõnikord (5–29%)
Generalized myoclonic seizureMõnikord (5–29%)
Grand mal seizuresMõnikord (5–29%)
Hyperactive movementsMõnikord (5–29%)
More active than typicalMõnikord (5–29%)
Peripheral nerve diseaseMõnikord (5–29%)
RestlessnessMõnikord (5–29%)
Typical absence seizureMõnikord (5–29%)
Seizure affecting one half of brainHarva (1–4%)

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Development of small head that was not present at birthVäga sageli (80–99%)
Progressively abnormally small craniumVäga sageli (80–99%)
Abnormal facial shapeSageli (30–79%)
Abnormally small headSageli (30–79%)
Abnormality of the bridge of the noseMõnikord (5–29%)
Full cheeksMõnikord (5–29%)
Hypoplastic philtrumMõnikord (5–29%)
Small foreheadMõnikord (5–29%)
Thin red part of the upper lipMõnikord (5–29%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Decreased blood concentration of leucineVäga sageli (80–99%)
Decreased blood isoleucine concentrationVäga sageli (80–99%)
Decreased CSF isoleucine concentrationVäga sageli (80–99%)
Decreased CSF leucine concentrationVäga sageli (80–99%)
Decreased CSF valine concentrationVäga sageli (80–99%)
Low blood valine concentrationVäga sageli (80–99%)

Abnormality of the integument

TraitKui sageli seda täheldatakse
Coarse hairMõnikord (5–29%)
Dry skinMõnikord (5–29%)

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Feeding difficultiesMõnikord (5–29%)

Abnormality of the ear

TraitKui sageli seda täheldatakse
Sensorineural hearing impairmentMõnikord (5–29%)

Abnormality of the eye

TraitKui sageli seda täheldatakse
Clouding of the lens of the eyeAlati

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
HydronephrosisMõnikord (5–29%)

Abnormality of the immune system

TraitKui sageli seda täheldatakse
Inflammatory abnormality of the skinMõnikord (5–29%)

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Low muscle toneMõnikord (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 BCKDK and how often each is seen. Find out more at hpo.jax.org.

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