Traits

Traits linked to RB1

RB transcriptional corepressor 1

The Human Phenotype Ontology links 55 traits to RB1, 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
Abnormally small head	Very often (80–99%)
Prominent nasal bridge	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Eye folds	Often (30–79%)
Little lower jaw	Often (30–79%)
Short neck	Often (30–79%)
Triangular head shape	Often (30–79%)
Webbed neck	Sometimes (5–29%)
Cleft palate	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Abnormally small eyeball	Often (30–79%)
Cat eye	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Retina tumor	Often (30–79%)
Vitritis	Sometimes (5–29%)
Leukocoria	Not recorded
Retinal calcification	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of the femoral bone	Very often (80–99%)
Abnormality of the wide portion of a long bone	Often (30–79%)
Abnormality of the wide portion of shankbone	Often (30–79%)
Curvature of little finger	Often (30–79%)
Finger syndactyly	Often (30–79%)
Short fingers or toes	Often (30–79%)
Absent/small thumb	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating lactate dehydrogenase concentration	Often (30–79%)
Elevated alkaline phosphatase	Often (30–79%)
Increased circulating lactate dehydrogenase concentration	Often (30–79%)
Joint swelling	Often (30–79%)
Fever	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Breakdown of bone	Very often (80–99%)
Low muscle tone	Often (30–79%)
Spontaneous fracture	Rarely (1–4%)
Bone cell cancer	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Very often (80–99%)
Holoprosencephaly	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Pinealoma	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Blood cancer	Not recorded
Cancer of lymphatic system	Not recorded
Vitreous hemorrhage	Not recorded

Abnormality of the ear

Trait	How often it is seen
Thickened helices	Very often (80–99%)
Low-set ears	Often (30–79%)
Prominent ear	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Very often (80–99%)
Short stature	Very often (80–99%)
Weight loss	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Bladder neoplasm	Not recorded
Transitional cell carcinoma of the bladder	Not recorded

Abnormal tissue mass

Trait	How often it is seen
Ewing sarcoma	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the gastrointestinal tract	Sometimes (5–29%)

Abnormality of the integument

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

Abnormality of the respiratory system

Trait	How often it is seen
Small cell lung carcinoma	Not recorded

Constitutional symptom

Trait	How often it is seen
Pain	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 RB1 and how often each is seen. Find out more at hpo.jax.org.

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