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	Hvor ofte den forekommer
Global developmental delay	Alltid
Intellectual disability	Alltid
Language impairment	Alltid
Motor delay	Alltid
Simple febrile seizure	Alltid
Autism spectrum disorder	Svært ofte (80–99 %)
Clumsiness	Svært ofte (80–99 %)
Intellectual disability, severe	Svært ofte (80–99 %)
Aggressive behavior	Ofte (30–79 %)
Autism	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Generalized-onset seizure	Ofte (30–79 %)
Increased reflexes	Ofte (30–79 %)
Interictal epileptiform activity	Ofte (30–79 %)
Loss of developmental milestones	Ofte (30–79 %)
Ataxia	Noen ganger (5–29 %)
Attention deficit	Noen ganger (5–29 %)
Dystonia	Noen ganger (5–29 %)
Generalized myoclonic seizure	Noen ganger (5–29 %)
Grand mal seizures	Noen ganger (5–29 %)
Hyperactive movements	Noen ganger (5–29 %)
More active than typical	Noen ganger (5–29 %)
Peripheral nerve disease	Noen ganger (5–29 %)
Restlessness	Noen ganger (5–29 %)
Typical absence seizure	Noen ganger (5–29 %)
Seizure affecting one half of brain	Sjelden (1–4%)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Development of small head that was not present at birth	Svært ofte (80–99 %)
Progressively abnormally small cranium	Svært ofte (80–99 %)
Abnormal facial shape	Ofte (30–79 %)
Abnormally small head	Ofte (30–79 %)
Abnormality of the bridge of the nose	Noen ganger (5–29 %)
Full cheeks	Noen ganger (5–29 %)
Hypoplastic philtrum	Noen ganger (5–29 %)
Small forehead	Noen ganger (5–29 %)
Thin red part of the upper lip	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Decreased blood concentration of leucine	Svært ofte (80–99 %)
Decreased blood isoleucine concentration	Svært ofte (80–99 %)
Decreased CSF isoleucine concentration	Svært ofte (80–99 %)
Decreased CSF leucine concentration	Svært ofte (80–99 %)
Decreased CSF valine concentration	Svært ofte (80–99 %)
Low blood valine concentration	Svært ofte (80–99 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Coarse hair	Noen ganger (5–29 %)
Dry skin	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Feeding difficulties	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Sensorineural hearing impairment	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Clouding of the lens of the eye	Alltid

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Hydronephrosis	Noen ganger (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Inflammatory abnormality of the skin	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Low muscle tone	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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