Traits

Traits linked to NUP62

nucleoporin 62

The Human Phenotype Ontology links 39 traits to NUP62, 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
Abnormal gait	Often (30–79%)
Abnormal speech pattern	Often (30–79%)
Ataxia	Often (30–79%)
Atrophy/Degeneration involving the caudate nucleus	Often (30–79%)
Babinski sign	Often (30–79%)
Basal ganglia gliosis	Often (30–79%)
Choreoathetosis	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Dystonia	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Increased reflexes	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Tetraparesis	Often (30–79%)
Astrocytosis	Sometimes (5–29%)
Basal ganglia cysts	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)
Small basal ganglia	Sometimes (5–29%)
Developmental stagnation	Not recorded
Intellectual disability	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Spastic tetraparesis	Often (30–79%)
Cogwheel rigidity	Sometimes (5–29%)
Frequent falls	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Horizontal pendular nystagmus	Often (30–79%)
Optic atrophy	Often (30–79%)
Undetectable light- and dark-adapted electroretinogram	Sometimes (5–29%)
Pendular nystagmus	Not recorded

Abnormality of limbs

Trait	How often it is seen
Decreased arm strength	Sometimes (5–29%)
Lower limb muscle weakness	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Often (30–79%)
Acid reflux	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 NUP62 and how often each is seen. Find out more at hpo.jax.org.

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