Traits

Traits linked to PCDH15

protocadherin related 15

The Human Phenotype Ontology links 19 traits to PCDH15, 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
Abnormal electroretinogram	Very often (80–99%)
Blind spot	Very often (80–99%)
Difficulties with night vision	Very often (80–99%)
Rod-cone dystrophy	Very often (80–99%)
Visual loss	Very often (80–99%)
Clouding of the lens of the eye	Often (30–79%)
Decreased clarity of vision	Often (30–79%)
Loss of peripheral vision	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Clumsy tandem walking	Very often (80–99%)
Abnormality of balance	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Motor delay	Often (30–79%)
Anxiety	Sometimes (5–29%)
Depression	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Congenital sensorineural hearing impairment	Always
Sensorineural hearing impairment	Always
Abnormal cochlea morphology	Very often (80–99%)
Abnormal vestibular function	Very often (80–99%)
Hearing impairment	Not recorded

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 PCDH15 and how often each is seen. Find out more at hpo.jax.org.

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