congenital fibrosis of extraocular muscles type 1
MONDO:0021083Mondo
Findings
No curated finding names congenital fibrosis of extraocular muscles type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.
Definition from the Mondo Disease Ontology (MONDO:0021083), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant 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.
- KIF21AHGNC:19349
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: congenital fibrosis of extraocular muscles type 1
- Also called
- CFEOM1congenital fibrosis of extraocular muscles caused by mutation in KIF21Afibrosis of extraocular muscles, congenital, 1KIF21A congenital fibrosis of extraocular muscles