Traits

Traits linked to TRAPPC2L

trafficking protein particle complex subunit 2L

The Human Phenotype Ontology links 13 traits to TRAPPC2L, 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
Absent speech development	Always
Delayed CNS myelination	Always
Epilepsy	Always
Inability to walk	Always
Loss of developmental milestones	Always
Paralysis of all four limbs	Always
Repeated seizures without recovery between them	Always
Severe global developmental delay	Always
Degeneration of cerebrum	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Always

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Breakdown of skeletal muscle	Always

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	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 TRAPPC2L and how often each is seen. Find out more at hpo.jax.org.

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