fibrosis of extraocular muscles, congenital, 2
Findings
No curated finding names fibrosis of extraocular muscles, congenital, 2 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 PHOX2A gene.
Definition from the Mondo Disease Ontology (MONDO:0011181), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral ptosisHPOHP:0001488
- ExotropiaHPOHP:0000577
- Restrictive external ophthalmoplegiaHPOHP:0007936
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.
- PHOX2AHGNC:691
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: fibrosis of extraocular muscles, congenital, 2
- Also called
- congenital fibrosis of extraocular muscles caused by mutation in PHOX2Afibrosis of extraocular muscles, congenital, type 2PHOX2A congenital fibrosis of extraocular muscles