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	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Language impairment	Always
Motor delay	Always
Simple febrile seizure	Always
Autism spectrum disorder	Very often (80–99%)
Clumsiness	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Aggressive behavior	Often (30–79%)
Autism	Often (30–79%)
Epilepsy	Often (30–79%)
Generalized-onset seizure	Often (30–79%)
Increased reflexes	Often (30–79%)
Interictal epileptiform activity	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Ataxia	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Generalized myoclonic seizure	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Hyperactive movements	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Peripheral nerve disease	Sometimes (5–29%)
Restlessness	Sometimes (5–29%)
Typical absence seizure	Sometimes (5–29%)
Seizure affecting one half of brain	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Very often (80–99%)
Progressively abnormally small cranium	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Abnormally small head	Often (30–79%)
Abnormality of the bridge of the nose	Sometimes (5–29%)
Full cheeks	Sometimes (5–29%)
Hypoplastic philtrum	Sometimes (5–29%)
Small forehead	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Decreased blood concentration of leucine	Very often (80–99%)
Decreased blood isoleucine concentration	Very often (80–99%)
Decreased CSF isoleucine concentration	Very often (80–99%)
Decreased CSF leucine concentration	Very often (80–99%)
Decreased CSF valine concentration	Very often (80–99%)
Low blood valine concentration	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Coarse hair	Sometimes (5–29%)
Dry skin	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Inflammatory abnormality of the skin	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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