Traits

Traits linked to WDR48

WD repeat domain 48

The Human Phenotype Ontology links 9 traits to WDR48, 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
Abnormal gait	Often (30–79%)
Impaired vibration sensation in the lower limbs	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Motor axonal neuropathy	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Lower limb spasticity	Often (30–79%)
Spastic paraplegia	Often (30–79%)
Spastic walk	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	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 WDR48 and how often each is seen. Find out more at hpo.jax.org.

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