Traits

Traits linked to CHKA

choline kinase alpha

The Human Phenotype Ontology links 25 traits to CHKA, 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
Absent speech development	Always
Delayed motor skills	Always
Epileptic encephalopathy	Always
Increased reflexes	Always
Severe global developmental delay	Always
Inability to walk	Very often (80–99%)
Aggressive behavior	Often (30–79%)
CNS hypomyelination	Often (30–79%)
Disorder of involuntary muscle movements	Often (30–79%)
Autism spectrum disorder	Sometimes (5–29%)
Choreoathetosis	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Thin corpus callosum	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spasticity and rigidity of muscles	Always
Scoliosis	Often (30–79%)
Rigidity	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
High palate	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Cerebral visual impairment	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the genitourinary system

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

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)

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 CHKA and how often each is seen. Find out more at hpo.jax.org.

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