Traits

Traits linked to USH1C

USH1 protein network component harmonin

The Human Phenotype Ontology links 21 traits to USH1C, 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	Always
Involuntary, rapid, rhythmic eye movements	Always
Rod-cone dystrophy	Always
Visual loss	Always
Blind spot	Very often (80–99%)
Difficulties with night vision	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%)
Undetectable electroretinogram	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always
Abnormal cochlea morphology	Very often (80–99%)
Abnormal vestibular function	Often (30–79%)
Absent vestibular function	Not recorded
Congenital sensorineural hearing impairment	Not recorded
Vestibular hyporeflexia	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
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%)

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 USH1C and how often each is seen. Find out more at hpo.jax.org.

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