Traits

Traits linked to RUSC2

RUN and SH3 domain containing 2

The Human Phenotype Ontology links 47 traits to RUSC2, 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
Intellectual disability	Always
Aggressive behavior	Often (30–79%)
Babinski sign	Often (30–79%)
Brain degeneration	Often (30–79%)
Clonus	Often (30–79%)
Hypsarrhythmia	Often (30–79%)
Increased reflexes	Often (30–79%)
Infantile spasms	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
More active than typical	Often (30–79%)
Motor delay	Often (30–79%)
Sudden loss of muscle tone	Often (30–79%)
Tonic seizure	Often (30–79%)
Unsteady walk	Often (30–79%)
EEG abnormality	Rarely (1–4%)
Underdevelopment of part of brain called corpus callosum	Rarely (1–4%)
Delayed ability to walk	Not recorded
Delayed speech and language development	Not recorded
Global developmental delay	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big lower jaw	Often (30–79%)
Bulbous nose	Often (30–79%)
Cone shaped tooth	Often (30–79%)
High palate	Often (30–79%)
Long eyelashes	Often (30–79%)
Long face	Often (30–79%)
Long, narrow head	Often (30–79%)
Monobrow	Often (30–79%)
Prominent nose	Often (30–79%)
Thick eyebrow	Often (30–79%)
Development of small head that was not present at birth	Not recorded
Highly arched eyebrow	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Low muscle tone in trunk	Very often (80–99%)
Double-Jointed	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Proximal neurogenic muscle weakness	Often (30–79%)
Scoliosis	Often (30–79%)
Decreased muscle mass	Not recorded

Abnormality of limbs

Trait	How often it is seen
Club feet	Often (30–79%)
High-arched foot	Often (30–79%)
Long fingers	Often (30–79%)
Prominent fingertip pads	Often (30–79%)
Tapered finger	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Thick hair	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 RUSC2 and how often each is seen. Find out more at hpo.jax.org.

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