Traits

Traits linked to GUCY2D

guanylate cyclase 2D, retinal

The Human Phenotype Ontology links 64 traits to GUCY2D, 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
Chorioretinal atrophy	Always
Color blindness	Always
Decreased clarity of vision	Always
Difficulties with night vision	Always
Involuntary, rapid, rhythmic eye movements	Always
Abnormal optic disc morphology	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Extreme sensitivity of the eyes to light	Very often (80–99%)
Full-thickness macular hole	Very often (80–99%)
Hyperautofluorescent macular lesion	Very often (80–99%)
Macular atrophy	Very often (80–99%)
Marked vision impairment	Very often (80–99%)
Abnormal color vision	Often (30–79%)
Abnormal electroretinogram	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Blind spot located at fixation point	Often (30–79%)
Blindness	Often (30–79%)
Blue yellow color blindness	Often (30–79%)
Bulging cornea	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Farsightedness	Often (30–79%)
Foveal photoreceptor outer segment loss on macular OCT	Often (30–79%)
Fundus hypopigmentation	Often (30–79%)
Optic disc pallor	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Retinal atrophy	Often (30–79%)
Slow decrease in sharpness of vision	Often (30–79%)
Slow pupillary light response	Often (30–79%)
Spicular pigmentation of the retina	Often (30–79%)
Visual impairment	Often (30–79%)
Visual loss	Often (30–79%)
Absent retinal pigment epithelium	Sometimes (5–29%)
Choriocapillaris atrophy	Sometimes (5–29%)
Drusen	Sometimes (5–29%)
Metamorphopsia	Sometimes (5–29%)
Optic disc drusen	Sometimes (5–29%)
Perifoveal ring of hyperautofluorescence	Sometimes (5–29%)
Retinal pigment epithelial mottling	Sometimes (5–29%)
Atrophic fundus lesion	Not recorded
Cone/cone-rod dystrophy	Not recorded
Day blindness	Not recorded
Decreased light- and dark-adapted electroretinogram amplitude	Not recorded
Loss of peripheral vision	Not recorded
Night blindness since birth	Not recorded
Pigmentary retinopathy	Not recorded
Progressive night blindness	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
Hearing impairment	Sometimes (5–29%)
Sensorineural hearing impairment	Not recorded

Laboratory abnormality

Trait	How often it is seen
High blood threonine levels	Not recorded
High urine threonine levels	Not recorded

Abnormality of head or neck

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

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of blood vessels in back of eye	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Not recorded

Abnormality of the musculoskeletal system

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

Growth abnormality

Trait	How often it is seen
Growth delay	Not recorded

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 GUCY2D and how often each is seen. Find out more at hpo.jax.org.

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