nystagmus 1, congenital, X-linked
MONDO:0010693Mondo
Findings
No curated finding names nystagmus 1, congenital, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.
Definition from the Mondo Disease Ontology (MONDO:0010693), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FRMD7HGNC:8079
- Definitive · Ambry Genetics · X-linked · 2025
- Definitive · G2P · X-linked · 2024
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: nystagmus 1, congenital, X-linked
- Also called
- congenital nystagmus caused by mutation in FRMD7FRMD7 congenital nystagmus