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

Trait	나타나는 빈도
Global developmental delay	항상
Intellectual disability	항상
Language impairment	항상
Motor delay	항상
Simple febrile seizure	항상
Autism spectrum disorder	매우 자주 (80–99%)
Clumsiness	매우 자주 (80–99%)
Intellectual disability, severe	매우 자주 (80–99%)
Aggressive behavior	자주 (30–79%)
Autism	자주 (30–79%)
Epilepsy	자주 (30–79%)
Generalized-onset seizure	자주 (30–79%)
Increased reflexes	자주 (30–79%)
Interictal epileptiform activity	자주 (30–79%)
Loss of developmental milestones	자주 (30–79%)
Ataxia	가끔 (5–29%)
Attention deficit	가끔 (5–29%)
Dystonia	가끔 (5–29%)
Generalized myoclonic seizure	가끔 (5–29%)
Grand mal seizures	가끔 (5–29%)
Hyperactive movements	가끔 (5–29%)
More active than typical	가끔 (5–29%)
Peripheral nerve disease	가끔 (5–29%)
Restlessness	가끔 (5–29%)
Typical absence seizure	가끔 (5–29%)
Seizure affecting one half of brain	드물게 (1–4%)

Trait	나타나는 빈도
Development of small head that was not present at birth	매우 자주 (80–99%)
Progressively abnormally small cranium	매우 자주 (80–99%)
Abnormal facial shape	자주 (30–79%)
Abnormally small head	자주 (30–79%)
Abnormality of the bridge of the nose	가끔 (5–29%)
Full cheeks	가끔 (5–29%)
Hypoplastic philtrum	가끔 (5–29%)
Small forehead	가끔 (5–29%)
Thin red part of the upper lip	가끔 (5–29%)

Trait	나타나는 빈도
Decreased blood concentration of leucine	매우 자주 (80–99%)
Decreased blood isoleucine concentration	매우 자주 (80–99%)
Decreased CSF isoleucine concentration	매우 자주 (80–99%)
Decreased CSF leucine concentration	매우 자주 (80–99%)
Decreased CSF valine concentration	매우 자주 (80–99%)
Low blood valine concentration	매우 자주 (80–99%)

Trait	나타나는 빈도
Coarse hair	가끔 (5–29%)
Dry skin	가끔 (5–29%)

Trait	나타나는 빈도
Feeding difficulties	가끔 (5–29%)

Trait	나타나는 빈도
Sensorineural hearing impairment	가끔 (5–29%)

Trait	나타나는 빈도
Clouding of the lens of the eye	항상

Trait	나타나는 빈도
Hydronephrosis	가끔 (5–29%)

Trait	나타나는 빈도
Inflammatory abnormality of the skin	가끔 (5–29%)

Trait	나타나는 빈도
Low muscle tone	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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.

$449부터배송비 무료 · 결과는 6~8주 내 제공