Traits

Traits linked to SRPK3

SRSF protein kinase 3

The Human Phenotype Ontology links 24 traits to SRPK3, 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
Agenesis of corpus callosum	Always
Degeneration of cerebellum	Always
Delayed speech and language development	Always
Global developmental delay	Always
Lateral ventricle dilatation	Very often (80–99%)
Motor delay	Very often (80–99%)
Ataxia	Often (30–79%)
Can't control feelings	Often (30–79%)
Colpocephaly	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
Partial agenesis of the corpus callosum	Often (30–79%)
Reduced cerebral white matter volume	Often (30–79%)
Short attention span	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Intellectual disability, borderline	Sometimes (5–29%)
Intellectual disability, severe	Sometimes (5–29%)
Limb dystonia	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Sometimes (5–29%)
Enlarged cisterna magna	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Sometimes (5–29%)
Proximal neurogenic muscle weakness	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	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 SRPK3 and how often each is seen. Find out more at hpo.jax.org.

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