Stickler syndrome, type 4
Findings
No curated finding names Stickler syndrome, type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013590), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
27 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.
- AstigmatismHPOHP:0000483
- 4 of 4 reported patients
- CataractHPOHP:0000518
- 3 of 3 reported patients
- Chorioretinal atrophyHPOHP:0000533
- 3 of 3 reported patients
- Degenerative vitreoretinopathyHPOHP:0007964
- 4 of 4 reported patients
- Epiphyseal dysplasiaHPOHP:0002656
- 13 of 13 reported patients
- Flat faceHPOHP:0012368
- 4 of 4 reported patients
- Genu valgumHPOHP:0002857
Show the remaining 15
- Hypernasal speechHPOHP:0001611
- 2 of 3 reported patients
- Pes planusHPOHP:0001763
- 2 of 3 reported patients
- Short femoral neckHPOHP:0100864
- 2 of 3 reported patients
- Flat capital femoral epiphysisHPOHP:0003370
- 2 of 4 reported patients
- Irregular capital femoral epiphysisHPOHP:0005041
- 2 of 4 reported patients
- EpicanthusHPOHP:0000286
- 1 of 3 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.
- COL9A1HGNC:2217
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2016
Where it sits
- A kind of
Other names
2 names
Resolves to: Stickler syndrome, type 4
- Also called
- autosomal recessive Stickler syndrome caused by mutation in COL9A1COL9A1 autosomal recessive Stickler syndrome