fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
Findings
No curated finding names fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement 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 TUBB3 gene.
Definition from the Mondo Disease Ontology (MONDO:0010912), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Congenital fibrosis of extraocular musclesHPOHP:0001491
- 7 of 8 reported patients
- Hypoplastic anterior commissureHPOHP:0030303
- 7 of 8 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 6 of 7 reported patients
- Dysgenesis of the basal gangliaHPOHP:0025102
- 4 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 7 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 4 of 8 reported patients
- Facial palsyHPO
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.
- TUBB3HGNC:20772
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
- Also called
- congenital fibrosis of extraocular muscles caused by mutation in TUBB3fibrosis of extraocular muscles, congenital, 3ATUBB3 congenital fibrosis of extraocular muscles