Traits

Traits linked to WDR45B

WD repeat domain 45B

The Human Phenotype Ontology links 20 traits to WDR45B, 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
IQ less than 20	Always
Reduced cerebral white matter volume	Always
Underdevelopment of part of brain called corpus callosum	Always
Epilepsy	Very often (80–99%)
Global developmental delay	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Focal tonic seizure	Sometimes (5–29%)
Absent speech development	Not recorded
Inability to walk	Not recorded
Small cerebrum	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spastic paraplegia	Always
Joint contracture	Very often (80–99%)
Spastic tetraplegia	Very often (80–99%)
Low muscle tone	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Kyphoscoliosis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Visual impairment	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	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 WDR45B and how often each is seen. Find out more at hpo.jax.org.

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