myopia 6
MONDO:0012154Mondo
Findings
No curated finding names myopia 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any myopia in which the cause of the disease is a mutation in the SCO2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012154), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
15 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 fundus morphologyHPOHP:0001098
- 2 of 2 reported patients
- High myopiaHPOHP:0011003
- 6 of 6 reported patients
- Increased axial length of the globeHPOHP:0007800
- 2 of 2 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 0 of 6 reported patients
- Congestive heart failureHPOHP:0001635
- 0 of 6 reported patients
- Failure to thriveHPOHP:0001508
Show the remaining 3
- Respiratory failureHPOHP:0002878
- 0 of 6 reported patients
- SeizureHPOHP:0001250
- 0 of 6 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 0 of 6 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.
- SCO2HGNC:10604
- Strong · G2P · Autosomal dominant · 2017
- Disputed Evidence · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: myopia 6
- Also called
- myopia (disease) caused by mutation in SCO2myopia type 6SCO2 myopia (disease)