ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
MONDO:0007509Mondo
Findings
No curated finding names ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
10 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.
- HypohidrosisHPOHP:0000966
- 10 of 10 reported patients
- Sparse eyebrowHPOHP:0045075
- 8 of 10 reported patients
- HypodontiaHPOHP:0000668
- 2 of 10 reported patients
- Heat intoleranceHPOHP:0002046
- 1 of 10 reported patients
- Ridged nailHPOHP:0001807
- 1 of 10 reported patients
- Dry skinHPOHP:0000958
- Ectodermal dysplasiaHPOHP:0000968
- Fine hairHPOHP:0002213
- Sparse eyelashesHPOHP:0000653
- Sparse hairHPOHP:0008070
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.
- EDARHGNC:2895
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2024