HELIX syndrome
MONDO:0060564Mondo
Findings
No curated finding names HELIX 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
7 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.
- AlacrimaHPOHP:0000522
- 13 of 13 reported patients
- AnhidrosisHPOHP:0000970
- 13 of 13 reported patients · Congenital onset
- HypermagnesemiaHPOHP:0002918
- 6 of 6 reported patients
- HyperparathyroidismHPOHP:0000843
- 2 of 2 reported patients
- XerostomiaHPOHP:0000217
- 13 of 13 reported patients
- Kidney stoneHPOHP:0000787
- 4 of 13 reported patients · Juvenile onset
- Heat intoleranceHPOHP:0002046
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.
- CLDN10HGNC:2033
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: HELIX syndrome
- Also called
- HELIXhypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome