Traits

Traits linked to IMPDH1

inosine monophosphate dehydrogenase 1

The Human Phenotype Ontology links 53 traits to IMPDH1, 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
Bull's eye maculopathy	Always
Decreased clarity of vision	Always
Difficulties with night vision	Always
Limited peripheral vision	Always
Optic disc pallor	Always
Spicular pigmentation of the retina	Always
Abnormal electroretinogram	Very often (80–99%)
Abnormal optic disc morphology	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%)
Marked vision impairment	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%)
Bulging cornea	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Cystoid macular edema	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Farsightedness	Often (30–79%)
Glaucoma	Often (30–79%)
Loss of peripheral vision	Often (30–79%)
Optic disc drusen	Often (30–79%)
Photoreceptor outer segment loss on macular OCT	Often (30–79%)
Posterior subcapsular cataract	Often (30–79%)
Retinal atrophy	Often (30–79%)
Slow pupillary light response	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Photopsia	Sometimes (5–29%)
Macular geographic atrophy	Not recorded
Rod-cone dystrophy	Not recorded
Undetectable light- and dark-adapted electroretinogram	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%)
Global developmental delay	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Motor delay	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 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%)

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Hyperinsulinemia	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 IMPDH1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test