ophthalmoplegia, external, with rib and vertebral anomalies
MONDO:0032565Mondo
Findings
No curated finding names ophthalmoplegia, external, with rib and vertebral anomalies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 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.
- External ophthalmoplegiaHPOHP:0000544
- 5 of 5 reported patients · Congenital onset
- ScoliosisHPOHP:0002650
- 4 of 4 reported patients
- Short ribsHPOHP:0000773
- 3 of 3 reported patients
- TorticollisHPOHP:0000473
- 4 of 4 reported patients
- ExotropiaHPOHP:0000577
- 4 of 5 reported patients
- PtosisHPOHP:0000508
- 4 of 5 reported patients · Congenital onset
- HypotropiaHPOHP:0025584
- 3 of 5 reported patients
- Basilar invaginationHPOHP:0012366
- 2 of 5 reported patients
- Missing ribsHPOHP:0000921
- 1 of 3 reported patients
- Pectus carinatumHPOHP:0000768
- 1 of 5 reported patients
- PseudoarthrosisHPOHP:0005864
- 1 of 5 reported patients
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.
- MYF5HGNC:7565
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of