Traits

Traits linked to SKOR2

SKI family transcriptional corepressor 2

The Human Phenotype Ontology links 22 traits to SKOR2, 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
Cerebellar dysplasia	Always
Delayed ability to walk	Always
Global developmental delay	Always
Hypoplasia of the pons	Always
Intellectual disability, mild	Always
Small cerebellum	Always
Specific learning disability	Always
Thick corpus callosum	Always
Inability to coordinate movements when walking	Very often (80–99%)
Ataxia	Often (30–79%)
Clumsiness	Often (30–79%)
Head titubation	Often (30–79%)
Difficulty articulating speech	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Softening of the bones	Always
Scoliosis	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Severe gum disease	Always
Small posterior fossa	Always

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Always
Cross-eyed	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Dislocated hip since birth	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Retrograde ejaculation	Always

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 SKOR2 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test