Traits

Traits linked to KPTN

kaptin, actin binding protein

The Human Phenotype Ontology links 39 traits to KPTN, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Frontal bossing	Always
High palate	Always
Prominent forehead	Always
Receding chin	Always
Big calvaria	Very often (80–99%)
Big lower jaw	Often (30–79%)
Scaphocephaly	Often (30–79%)
Deformity of the skull	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Fullness of eyelids	Sometimes (5–29%)
Narrow eyelid opening	Sometimes (5–29%)
Small retruded chin	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Broad nasal tip	Not recorded
Long, narrow head	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Anxiety	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Autism spectrum disorder	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Generalized-onset seizure	Often (30–79%)
Global developmental delay	Often (30–79%)
Grand mal seizures	Often (30–79%)
Motor delay	Often (30–79%)
Repetitive movements	Often (30–79%)
Self-injurious behavior	Often (30–79%)
Brief seizures with staring spells	Sometimes (5–29%)
EEG with generalized slow activity	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Often (30–79%)
Prominent fingertip pads	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Sometimes (5–29%)
Increased spleen size	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the ear

Trait	How often it is seen
Abnormal speech discrimination	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Sometimes (5–29%)

Abnormality of the immune system

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	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 KPTN and how often each is seen. Find out more at hpo.jax.org.

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