Traits

Traits linked to ZNF408

zinc finger protein 408

The Human Phenotype Ontology links 72 traits to ZNF408, 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
Decreased clarity of vision	Always
Difficulties with night vision	Always
Exudative vitreoretinopathy	Always
Limited peripheral vision	Always
Optic disc pallor	Always
Posterior subcapsular cataract	Always
Rod-cone dystrophy	Always
Spicular pigmentation of the retina	Always
Vitreoretinopathy	Always
Abnormal electroretinogram	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Blindness	Very often (80–99%)
Extreme sensitivity of the eyes to light	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Progressive night blindness	Very often (80–99%)
Retina degeneration	Very often (80–99%)
Visual impairment	Very often (80–99%)
Abnormal central response of multifocal electroretinogram	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Abnormal optic disc morphology	Often (30–79%)
Bulging cornea	Often (30–79%)
Chorioretinal atrophy	Often (30–79%)
Close sighted	Often (30–79%)
Cystoid macular edema	Often (30–79%)
Esodeviation	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Falciform retinal fold	Often (30–79%)
Glaucoma	Often (30–79%)
Horizontal nystagmus	Often (30–79%)
Loss of peripheral vision	Often (30–79%)
Optic disc drusen	Often (30–79%)
Peripapillary atrophy	Often (30–79%)
Photoreceptor outer segment loss on macular OCT	Often (30–79%)
Retinal atrophy	Often (30–79%)
Retinal detachment	Often (30–79%)
Severe near sightedness	Often (30–79%)
Subretinal fluid	Often (30–79%)
Tractional retinal detachment	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Abnormally small eyeball	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cortical cataract	Sometimes (5–29%)
Epiretinal membrane	Sometimes (5–29%)
Eye floaters	Sometimes (5–29%)
Macular edema	Sometimes (5–29%)
Marked vision impairment	Sometimes (5–29%)
Patchy atrophy of the retinal pigment epithelium	Sometimes (5–29%)
Photopsia	Sometimes (5–29%)
Posterior vitreous detachment	Sometimes (5–29%)
Retinal exudate	Sometimes (5–29%)
Retinal hole	Sometimes (5–29%)
Rhegmatogenous retinal detachment	Sometimes (5–29%)
Yellowish cloudy center of lens	Sometimes (5–29%)
Progressive loss of vision	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of blood vessels in back of eye	Always
Abnormality of retina blood vessels	Very often (80–99%)
Avascular peripheral retina	Very often (80–99%)
Retinal neovascularization	Often (30–79%)
Macular exudate	Sometimes (5–29%)
Macular telangiectasia	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)
Hearing impairment	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability, mild	Sometimes (5–29%)
Mild global developmental delay	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Hyperinsulinemia	Often (30–79%)
Swelling caused by excess lymph fluid under skin	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Vitreous hemorrhage	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low solidness and mass of the bones	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 ZNF408 and how often each is seen. Find out more at hpo.jax.org.

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