VISS syndrome
MONDO:0859177Mondo
Findings
No curated finding names VISS syndrome 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
113 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.
- Aortic tortuosityHPOHP:0006687
- 2 of 2 reported patients
- Arterial tortuosityHPOHP:0005116
- 2 of 2 reported patients
- Ascending tubular aorta aneurysmHPOHP:0004970
- 6 of 6 reported patients
- Increased circulating IgE concentrationHPOHP:0003212
- 3 of 3 reported patients
- Increased circulating IgG concentrationHPOHP:0003237
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 7 of 7 reported patients
- Aortic root aneurysmHPOHP:0002616
- 17 of 19 reported patients
- RetrognathiaHPOHP:0000278
- 6 of 7 reported patients
- HypotoniaHPOHP:0001252
- 13 of 16 reported patients
- Severely increased total eosinophil countHPOHP:0032061
- 4 of 5 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 3 of 4 reported patients
- DolichocephalyHPOHP:0000268
- 5 of 7 reported patients
Show the remaining 101
- Pes planusHPOHP:0001763
- 5 of 7 reported patients
- Joint hypermobilityHPOHP:0001382
- 26 of 37 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 7 reported patients
- 7 of 12 reported patients
- 6 of 9 reported patients · Adult onset
- Umbilical herniaHPOHP:0001537
- 18 of 28 reported patients
- ArachnodactylyHPOHP:0001166
- 12 of 19 reported patients
- ScoliosisHPOHP:0002650
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.
- IPO8HGNC:9853
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of