Stickler syndrome, type 6
MONDO:0031047Mondo
Findings
No curated finding names Stickler syndrome, type 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
12 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
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Internal tibial torsionHPOHP:0034372
- 3 of 3 reported patients
- Pes planusHPOHP:0001763
- 3 of 3 reported patients
- Pes valgusHPOHP:0008081
- 3 of 3 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 3 of 3 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 2 of 3 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 3 reported patients
- High myopiaHPOHP:0011003
- 2 of 3 reported patients
- Midface retrusionHPOHP:0011800
- 2 of 3 reported patients
- Moderate myopiaHPOHP:0031624
- 1 of 3 reported patients
- PtosisHPOHP:0000508
- 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.
- COL9A3HGNC:2219
- Definitive · Ambry Genetics · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2026
Where it sits
- A kind of
Other names
2 names
Resolves to: Stickler syndrome, type 6
- Also called
- Stickler syndrome, type VISTL6