Traits

Traits linked to WASF1

WASP family member 1

The Human Phenotype Ontology links 29 traits to WASF1, 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
Delayed ability to walk	Always
Delayed speech and language development	Always
Intellectual disability, severe	Always
Epilepsy	Very often (80–99%)
Delayed ability to sit	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Self-injurious behavior	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Wide based walk	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Often (30–79%)
Short 3rd toe	Often (30–79%)
Tapered finger	Often (30–79%)
Back knee	Sometimes (5–29%)
Short 4th toe	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Very often (80–99%)
Blue outer white part of eyeball	Often (30–79%)
Bulging eye	Sometimes (5–29%)
Decreased clarity of vision	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Midface retrusion	Often (30–79%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)
Inverted nipples	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Very often (80–99%)
Feeding difficulties	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Very often (80–99%)
Double-Jointed	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Frequent urinary tract infections	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Birthmark	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 WASF1 and how often each is seen. Find out more at hpo.jax.org.

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