congenital fibrosis of extraocular muscles
MONDO:0007614Mondo
Findings
No curated finding names congenital fibrosis of extraocular muscles yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
36 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.
- Abnormal best corrected visual acuity testHPOHP:0030534
- Very frequent (80% to 99% of cases)
- Abnormality of ocular abductionHPOHP:0011347
- Very frequent (80% to 99% of cases)
- Absent Bell phenomenonHPOHP:6000709
- Very frequent (80% to 99% of cases)
- Congenital fibrosis of extraocular musclesHPOHP:0001491
- Very frequent (80% to 99% of cases)
- ExotropiaHPOHP:0000577
- Very frequent (80% to 99% of cases)
- Impaired ocular adductionHPOHP:0000542
- Very frequent (80% to 99% of cases)
- Levator palpebrae superioris atrophyHPOHP:0012241
- Very frequent (80% to 99% of cases)
- Limited vertical extraocular movementHPOHP:0025721
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Slow pupillary light responseHPOHP:0030211
- Very frequent (80% to 99% of cases)
- StrabismusHPO · MondoHP:0000486
- Very frequent (80% to 99% of cases)
- Abnormal electroretinogramHPOHP:0000512
- Frequent (30% to 79% of cases)
Show the remaining 24
- Abnormal involuntary eye movementsHPOHP:0012547
- Frequent (30% to 79% of cases)
- Abnormal pupil shapeHPOHP:0025309
- Frequent (30% to 79% of cases)
- Abnormal visual field testHPOHP:0030588
- Frequent (30% to 79% of cases)
- Abnormality of refractionHPOHP:0000539
- Frequent (30% to 79% of cases)
- AmblyopiaHPOHP:0000646
- Frequent (30% to 79% of cases)
- Compensatory chin elevationHPOHP:0001477
- Frequent (30% to 79% of cases)
Genes
6 genes
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 · ClinGen · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- TUBA1AHGNC:20766
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PHOX2AHGNC:691
- Supportive · Orphanet · Autosomal dominant · 2021
- TUBB2BHGNC:30829
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Genomics England PanelApp · Autosomal dominant · 2020
- TUBB3HGNC:20772
Where it sits
- A kind of
- Narrower terms (8)
- congenital fibrosis of extraocular muscles type 1
- fibrosis of extraocular muscles, congenital, 2
- fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
- fibrosis of extraocular muscles, congenital, 3b
- fibrosis of extraocular muscles, congenital, 3c
- fibrosis of extraocular muscles, congenital, 5
- fibrosis of extraocular muscles, congenital, with synergistic divergence
- Tukel syndrome
Other names
4 names
Resolves to: congenital fibrosis of extraocular muscles
- Also called
- Congenital Fibrosis of the Extraocular MusclesFEOMfibrosis of extraocular muscles, congenitalfibrosis of extraocular muscles, congenital, type 1