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Traits
Traits linked to RAB11B
RAB11B, member RAS oncogene family
The Human Phenotype Ontology links 41 traits to RAB11B, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Abnormal gait | Always |
| Absent speech development | Always |
| Cerebellar vermis hypoplasia | Always |
| Delayed ability to walk | Always |
| Delayed motor skills | Always |
| Global developmental delay | Always |
| Intellectual disability | Always |
| Reduced cerebral white matter volume | Always |
| Small brainstem | Always |
| Thin corpus callosum | Always |
| Ventriculomegaly | Always |
| Wide based walk | Always |
| Dystonia | Often (30–79%) |
| Generalized-onset seizure | Often (30–79%) |
| Inability to coordinate movements when walking | Often (30–79%) |
| Repetitive movements | Often (30–79%) |
| Delayed CNS myelination | Sometimes (5–29%) |
| Happy demeanor | Sometimes (5–29%) |
| Obstructive sleep apnea | Sometimes (5–29%) |
| Poor eye contact | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Tapered finger | Always |
| Single transverse palmar crease | Often (30–79%) |
| Club foot on both sides | Sometimes (5–29%) |
| Curvature of little finger | Sometimes (5–29%) |
| High-arched foot | Sometimes (5–29%) |
| Overlapping toe | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormally small head | Very often (80–99%) |
| Decreased facial muscle tone | Sometimes (5–29%) |
| Drooling | Sometimes (5–29%) |
| Tented mouth | Sometimes (5–29%) |
| Upward slanting of the opening between the eyelids | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Cross-eyed | Often (30–79%) |
| Farsightedness | Often (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Often (30–79%) |
| Optic atrophy | Sometimes (5–29%) |
| Visual impairment | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Abnormal formation of the hip | Very often (80–99%) |
| Low muscle tone | Very often (80–99%) |
| Involuntary muscle stiffness, contraction, or spasm | Often (30–79%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Prominent antihelix | Sometimes (5–29%) |
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 RAB11B and how often each is seen. Find out more at hpo.jax.org.
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