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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

TraitHvor ofte det ses
Global developmental delayAltid
Intellectual disabilityAltid
Language impairmentAltid
Motor delayAltid
Simple febrile seizureAltid
Autism spectrum disorderMeget ofte (80–99 %)
ClumsinessMeget ofte (80–99 %)
Intellectual disability, severeMeget ofte (80–99 %)
Aggressive behaviorOfte (30–79 %)
AutismOfte (30–79 %)
EpilepsyOfte (30–79 %)
Generalized-onset seizureOfte (30–79 %)
Increased reflexesOfte (30–79 %)
Interictal epileptiform activityOfte (30–79 %)
Loss of developmental milestonesOfte (30–79 %)
AtaxiaNogle gange (5–29 %)
Attention deficitNogle gange (5–29 %)
DystoniaNogle gange (5–29 %)
Generalized myoclonic seizureNogle gange (5–29 %)
Grand mal seizuresNogle gange (5–29 %)
Hyperactive movementsNogle gange (5–29 %)
More active than typicalNogle gange (5–29 %)
Peripheral nerve diseaseNogle gange (5–29 %)
RestlessnessNogle gange (5–29 %)
Typical absence seizureNogle gange (5–29 %)
Seizure affecting one half of brainSjældent (1–4%)

Abnormality of head or neck

TraitHvor ofte det ses
Development of small head that was not present at birthMeget ofte (80–99 %)
Progressively abnormally small craniumMeget ofte (80–99 %)
Abnormal facial shapeOfte (30–79 %)
Abnormally small headOfte (30–79 %)
Abnormality of the bridge of the noseNogle gange (5–29 %)
Full cheeksNogle gange (5–29 %)
Hypoplastic philtrumNogle gange (5–29 %)
Small foreheadNogle gange (5–29 %)
Thin red part of the upper lipNogle gange (5–29 %)

Laboratory abnormality

TraitHvor ofte det ses
Decreased blood concentration of leucineMeget ofte (80–99 %)
Decreased blood isoleucine concentrationMeget ofte (80–99 %)
Decreased CSF isoleucine concentrationMeget ofte (80–99 %)
Decreased CSF leucine concentrationMeget ofte (80–99 %)
Decreased CSF valine concentrationMeget ofte (80–99 %)
Low blood valine concentrationMeget ofte (80–99 %)

Abnormality of the integument

TraitHvor ofte det ses
Coarse hairNogle gange (5–29 %)
Dry skinNogle gange (5–29 %)

Abnormality of the digestive system

TraitHvor ofte det ses
Feeding difficultiesNogle gange (5–29 %)

Abnormality of the ear

TraitHvor ofte det ses
Sensorineural hearing impairmentNogle gange (5–29 %)

Abnormality of the eye

TraitHvor ofte det ses
Clouding of the lens of the eyeAltid

Abnormality of the genitourinary system

TraitHvor ofte det ses
HydronephrosisNogle gange (5–29 %)

Abnormality of the immune system

TraitHvor ofte det ses
Inflammatory abnormality of the skinNogle gange (5–29 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Low muscle toneNogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • 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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