Traits

Traits linked to KCNJ13

potassium inwardly rectifying channel subfamily J member 13

The Human Phenotype Ontology links 59 traits to KCNJ13, 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
Clouding of the lens of the eye	Always
Decreased clarity of vision	Always
Involuntary, rapid, rhythmic eye movements	Always
Abnormal optic disc morphology	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Corneal guttata	Very often (80–99%)
Marked vision impairment	Very often (80–99%)
Abnormal color vision	Often (30–79%)
Abnormal electroretinogram	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Abnormal macular morphology	Often (30–79%)
Abnormal pupillary light reflex	Often (30–79%)
Bulging cornea	Often (30–79%)
Cross-eyed	Often (30–79%)
Difficulties with night vision	Often (30–79%)
Extreme sensitivity of the eyes to light	Often (30–79%)
Farsightedness	Often (30–79%)
Loss of peripheral vision	Often (30–79%)
Optic disc drusen	Often (30–79%)
Optic disc pallor	Often (30–79%)
Partial loss of field of vision	Often (30–79%)
Retina degeneration	Often (30–79%)
Retinal pigment epithelial mottling	Often (30–79%)
Slow pupillary light response	Often (30–79%)
Snowflake vitreoretinal degeneration	Often (30–79%)
Spicular pigmentation of the retina	Often (30–79%)
Undetectable electroretinogram	Often (30–79%)
Visual impairment	Often (30–79%)
Abnormal corneal endothelium morphology	Sometimes (5–29%)
Blurred vision	Sometimes (5–29%)
Chorioretinal atrophy	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Granular macular appearance	Sometimes (5–29%)
Macular pseudocoloboma	Sometimes (5–29%)
Optically empty vitreous	Sometimes (5–29%)
Outward facing eye ball	Sometimes (5–29%)
Posterior subcapsular cataract	Sometimes (5–29%)
Posterior synechiae of the anterior chamber	Sometimes (5–29%)
Retinal detachment	Sometimes (5–29%)
Retinal pigment epithelial atrophy	Sometimes (5–29%)
Rhegmatogenous retinal detachment	Rarely (1–4%)
Retinal dots	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of neuronal migration	Often (30–79%)
Aplasia/Hypoplasia of the cerebellar vermis	Often (30–79%)
Epilepsy	Often (30–79%)
Eye poking	Often (30–79%)
Paralysis or weakness of one side of body	Often (30–79%)
Autism spectrum disorder	Sometimes (5–29%)
Balance impairment	Sometimes (5–29%)
Delayed social development	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Mild global developmental delay	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Unsteady walk	Sometimes (5–29%)

Abnormality of head or neck

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

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of blood vessels in back of eye	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	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 KCNJ13 and how often each is seen. Find out more at hpo.jax.org.

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