Traits

Traits linked to TOPORS

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

The Human Phenotype Ontology links 84 traits to TOPORS, 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	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%)
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%)
Cystoid macular edema	Often (30–79%)
Difficulties with night vision	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Glaucoma	Often (30–79%)
Inward turning cross eyed	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%)
Photoreceptor outer segment loss on macular OCT	Often (30–79%)
Posterior subcapsular cataract	Often (30–79%)
Retinal atrophy	Often (30–79%)
Wide-set eyes	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Decreased clarity of vision	Sometimes (5–29%)
Photopsia	Sometimes (5–29%)
Retinal pigment epithelial atrophy	Not recorded
Rod-cone dystrophy	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal oral frenulum morphology	Often (30–79%)
Broad nasal tip	Often (30–79%)
Bumpy tongue	Often (30–79%)
Cleft palate	Often (30–79%)
Decreased width of the skull	Often (30–79%)
Eye folds	Often (30–79%)
Frontal bossing	Often (30–79%)
Hamartoma of tongue	Often (30–79%)
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Long face	Often (30–79%)
Tongue nodules	Often (30–79%)
Highly arched eyebrow	Sometimes (5–29%)
Midline notch of upper alveolar ridge	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Often (30–79%)
Ataxia	Often (30–79%)
Global developmental delay	Often (30–79%)
Hypoplasia of olfactory tract	Often (30–79%)
Intellectual disability	Often (30–79%)
Molar tooth sign on MRI	Often (30–79%)
Abnormality of neuronal migration	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Cerebellar vermis hypoplasia	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Hypothalamic hamartoma	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of finger	Often (30–79%)
Preaxial polydactyly	Often (30–79%)
Short fingers or toes	Often (30–79%)
Webbed fingers or toes	Often (30–79%)
Duplication of bones of the toes	Sometimes (5–29%)
Extra finger	Sometimes (5–29%)
Mesoaxial polydactyly	Sometimes (5–29%)
Y-shaped central long bones of hand	Sometimes (5–29%)

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	Often (30–79%)
Abnormality of the heart	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%)
Ears rotated toward back of head	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Bilateral cryptorchidism	Often (30–79%)
Absent kidney	Sometimes (5–29%)
Absent/small kidney	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Growth delay	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the musculoskeletal system

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

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Sometimes (5–29%)
Episodic tachypnea	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	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 TOPORS and how often each is seen. Find out more at hpo.jax.org.

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