Traits

Traits linked to RIN2

Ras and Rab interactor 2

The Human Phenotype Ontology links 55 traits to RIN2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
Coarse facial features	Always
Downward slanting of the opening between the eyelids	Always
Eye folds	Always
Full lips	Always
Fullness of eyelids	Always
Gum enlargement	Always
High forehead	Always
Little lower jaw	Always
Long philtrum	Always
Outward turned lips	Always
Sparse eyebrow	Always
Wide nasal bridge	Always
Abnormal lip	Very often (80–99%)
Fullness of upper eyelid	Very often (80–99%)
High palate	Very often (80–99%)
Infra-orbital fold	Very often (80–99%)
Irregular teeth	Very often (80–99%)
Sparse scalp hair	Very often (80–99%)
Recurrent canker sores	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Hyperelastic skin	Always
Loose redundant skin	Always
Soft skin	Always
Sparse hair	Always
Excessive hairiness	Very often (80–99%)
Ichthyosis	Sometimes (5–29%)
Hair loss	Not recorded
Hanging skin	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Low muscle tone	Always
Scoliosis	Very often (80–99%)
Abnormality of the sternum	Often (30–79%)
Funnel chest	Often (30–79%)
Osteoporosis	Often (30–79%)
Increased susceptibility to fractures	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Always
Short fingers or toes	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Narrowing of the urethra	Often (30–79%)
Undescended testes	Often (30–79%)
Early menopause	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Diffuse white matter abnormalities	Always
Cognitive impairment	Often (30–79%)
High pitched voice	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bruising susceptibility	Always
Prolonged bleeding time	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Dilation of Virchow-Robin spaces	Always
Bulge in wall of large artery that carries blood away from heart	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Not recorded
Short stature	Not recorded

Abnormality of the digestive system

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

Abnormality of the endocrine system

Trait	How often it is seen
Hypergonadotropic hypogonadism	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Severe near sightedness	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Permanent enlargement of the airways of the lungs	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	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 RIN2 and how often each is seen. Find out more at hpo.jax.org.

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