Traits

Traits linked to RBL2

RB transcriptional corepressor like 2

The Human Phenotype Ontology links 23 traits to RBL2, 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
Delayed ability to crawl	Always
Delayed ability to sit	Always
Delayed ability to walk	Always
Repetitive movements	Always
Severe global developmental delay	Always
Degeneration of cerebellum	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Myoclonic seizure	Often (30–79%)
Self-injurious behavior	Often (30–79%)
Thin corpus callosum	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Full lips	Always
Fullness around the eyes	Always
Increased calcification of skull	Always
Low frontal hairline	Always
Round face	Always
Thin eyebrow	Always
Wide nasal bridge	Always

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Gaze-evoked horizontal nystagmus	Often (30–79%)
Horizontal nystagmus	Often (30–79%)
Optic atrophy	Often (30–79%)
Wide-set eyes	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone, in neonatal onset	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 RBL2 and how often each is seen. Find out more at hpo.jax.org.

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