Traits

Traits linked to WDR1

WD repeat domain 1

The Human Phenotype Ontology links 16 traits to WDR1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low B cell count	Always
Abnormal CD4:CD8 ratio	Often (30–79%)
Intermittent thrombocytopenia	Often (30–79%)
Low blood neutrophil count	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Always
Recurrent pneumonia	Often (30–79%)
Abscess	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Recurrent canker sores	Often (30–79%)
Chronic oral thrush	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Swollen lymph nodes	Often (30–79%)
Increased spleen size	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Pyoderma gangrenosum	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Specific learning disability	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Permanent enlargement of the airways of the lungs	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Episodic fever	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 WDR1 and how often each is seen. Find out more at hpo.jax.org.

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