Traits

Traits linked to RD3

RD3 regulator of GUCY2D

The Human Phenotype Ontology links 27 traits to RD3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	Cât de frecvent apare
Abnormal optic disc morphology	Foarte des (80–99%)
Abnormal retinal pigmentation	Foarte des (80–99%)
Marked vision impairment	Foarte des (80–99%)
Abnormal electroretinogram	Des (30–79%)
Abnormal full-field electroretinogram	Des (30–79%)
Bulging cornea	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Extreme sensitivity of the eyes to light	Des (30–79%)
Farsightedness	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Slow pupillary light response	Des (30–79%)
Optic disc drusen	Uneori (5–29%)
Optic disc pallor	Uneori (5–29%)
Abnormal macular pigmentation	Neînregistrat
Blindness present at birth	Neînregistrat

Abnormality of the nervous system

Trait	Cât de frecvent apare
Abnormality of neuronal migration	Des (30–79%)
Aplasia/Hypoplasia of the cerebellar vermis	Des (30–79%)
Epilepsy	Des (30–79%)
Eye poking	Des (30–79%)
Paralysis or weakness of one side of body	Des (30–79%)
Autism spectrum disorder	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Motor delay	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Encephalocele	Des (30–79%)

Abnormality of the ear

Trait	Cât de frecvent apare
Hearing impairment	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Low muscle tone	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

The Human Phenotype Ontology, release 2026-09-01: the traits linked to RD3 and how often each is seen. Find out more at hpo.jax.org.

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