Traits

Traits linked to YAP1

Yes1 associated transcriptional regulator

The Human Phenotype Ontology links 19 traits to YAP1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Birth defect that causes a hole in the innermost layer at the back of the eye	Very often (80–99%)
Cat eye	Very often (80–99%)
Abnormally small eyeball	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Corneal opacity	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Posterior embryotoxon	Sometimes (5–29%)
Retinal detachment	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Often (30–79%)
Cleft upper lip	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Always

Laboratory abnormality

Trait	How often it is seen
Blood in urine	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 YAP1 and how often each is seen. Find out more at hpo.jax.org.

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