Trait

Downbeat nystagmus

Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.

HPO HP:0010545

Body system: Abnormality of the eye

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7 genes linked to Downbeat nystagmus

Changes in these genes cause rare conditions in which Downbeat nystagmus is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
FAT2FAT atypical cadherin 2	Always	In 1 condition
ANO10anoctamin 10	Often (30–79%)	In 2 conditions
COQ2coenzyme Q2, polyprenyltransferase	Often (30–79%)	In 1 condition
RFC1replication factor C subunit 1	Often (30–79%)	In 1 condition
FGF14fibroblast growth factor 14	Sometimes (5–29%)	In 1 condition
PLA2G6phospholipase A2 group VI	Rarely (1–4%)	In 1 condition
CACNA1Acalcium voltage-gated channel subunit alpha1 A	Not recorded	In 1 condition

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.

Broader traits

Vertical nystagmus

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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