Traits

Traits linked to KPNA3

karyopherin subunit alpha 3

The Human Phenotype Ontology links 36 traits to KPNA3, 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
Babinski sign	Always
Delayed ability to walk	Always
Motor delay	Always
Overactive lower leg reflex	Always
Unsteady walk	Always
Degeneration of the lateral corticospinal tracts	Very often (80–99%)
Attention deficit	Often (30–79%)
Decreased sensation in extremities	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Impaired vibration sensation in the lower limbs	Often (30–79%)
Increased reflexes	Often (30–79%)
Motor axonal neuropathy	Often (30–79%)
Sensory ataxia	Often (30–79%)
Spinal cord lesion	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Agenesis of cerebellar vermis	Sometimes (5–29%)
Clonus	Sometimes (5–29%)
Small brainstem	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Upper limb hyperreflexia	Sometimes (5–29%)
Abnormal cerebrospinal fluid morphology	Not recorded
Abnormal lower-limb motor evoked potentials	Not recorded
Epilepsy	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Lower limb spasticity	Always
Muscle stiffness	Always
Progressive spastic paraplegia	Very often (80–99%)
Muscle spasm	Sometimes (5–29%)
Spastic walk	Sometimes (5–29%)
EMG abnormality	Not recorded

Abnormality of limbs

Trait	How often it is seen
Lower limb muscle weakness	Always
Abnormal rhythmic movements of ankle	Often (30–79%)
High-arched foot	Sometimes (5–29%)

Abnormality of the genitourinary system

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

Constitutional symptom

Trait	How often it is seen
Fatigue	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 KPNA3 and how often each is seen. Find out more at hpo.jax.org.

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