Traits

Traits linked to TULP1

TUB like protein 1

The Human Phenotype Ontology links 58 traits to TULP1, 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 color vision	Always
Day blindness	Always
Decreased clarity of vision	Always
Difficulties with night vision	Always
Involuntary, rapid, rhythmic eye movements	Always
Limited peripheral vision	Always
Posterior subcapsular cataract	Always
Rod-cone dystrophy	Always
Slow pupillary light response	Always
Undetectable electroretinogram	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%)
Close sighted	Very often (80–99%)
Extreme sensitivity of the eyes to light	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%)
Spicular pigmentation of the retina	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%)
Dull foveal reflex	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%)
Optic disc pallor	Often (30–79%)
Peripapillary atrophy	Often (30–79%)
Photoreceptor outer segment loss on macular OCT	Often (30–79%)
Retinal atrophy	Often (30–79%)
Photopsia	Sometimes (5–29%)
Impaired smooth pursuit	Not recorded
Pigmentary retinopathy	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 head or neck

Trait	How often it is seen
Encephalocele	Often (30–79%)
Focal retinal arteriolar constriction	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of retina blood vessels	Very often (80–99%)
Narrowing of blood vessels in back of eye	Very often (80–99%)

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 TULP1 and how often each is seen. Find out more at hpo.jax.org.

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