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Traits

Traits linked to RAB5IF

RAB5 interacting factor

The Human Phenotype Ontology links 10 traits to RAB5IF, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

TraitHow often it is seen
Both sided cleft lipAlways
Flat faceAlways
Short neckAlways

Abnormality of the musculoskeletal system

TraitHow often it is seen
Funnel chestAlways
Shield chestAlways
Thoracic scoliosisAlways

Abnormality of the nervous system

TraitHow often it is seen
Absent speech developmentAlways
Cavum septum pellucidumAlways
Intellectual disability, severeAlways

Abnormality of the ear

TraitHow often it is seen
Low-set earsAlways

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 RAB5IF and how often each is seen. Find out more at hpo.jax.org.

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