Traits

Traits linked to MFSD8

major facilitator superfamily domain containing 8

The Human Phenotype Ontology links 36 traits to MFSD8, 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
Blind spot located at fixation point	Always
Decreased clarity of vision	Always
Macular dystrophy	Always
Visual impairment	Always
Abnormal retinal pigmentation	Very often (80–99%)
Difficulties with night vision	Very often (80–99%)
Extreme sensitivity of the eyes to light	Very often (80–99%)
Red green color blindness	Very often (80–99%)
Abnormal color vision	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Bull's eye maculopathy	Often (30–79%)
Color blindness	Often (30–79%)
Optic disc pallor	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Retinal atrophy	Often (30–79%)
Severe near sightedness	Often (30–79%)
Spicular pigmentation of the retina	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Metamorphopsia	Sometimes (5–29%)
Perifoveal ring of hyperautofluorescence	Sometimes (5–29%)
Blindness	Not recorded
Noninflammatory retina disease	Not recorded
Optic atrophy	Not recorded
Pigmentary retinopathy	Not recorded
Visual loss	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Not recorded
Degeneration of cerebellum	Not recorded
Degeneration of cerebrum	Not recorded
Delayed speech and language development	Not recorded
Difficulty sleeping	Not recorded
EEG abnormality	Not recorded
Generalized myoclonic seizure	Not recorded
Global developmental delay	Not recorded
Mental deterioration	Not recorded
Ongoing loss of nerve cells	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of blood vessels in back of eye	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 MFSD8 and how often each is seen. Find out more at hpo.jax.org.

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