ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
MONDO:0013982Mondo
Findings
No curated finding names ectodermal dysplasia 11A, hypohidrotic/hair/tooth 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
6 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.
- AnhidrosisHPOHP:0000970
- 7 of 7 reported patients
- Brittle hairHPOHP:0002299
- 3 of 3 reported patients
- HypodontiaHPOHP:0000668
- 7 of 7 reported patients
- HypohidrosisHPOHP:0000966
- 3 of 3 reported patients
- OligodontiaHPOHP:0000677
- 1 of 1 reported patient
- Sparse hairHPOHP:0008070
- 10 of 10 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.
- EDARADDHGNC:14341
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Semidominant · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2024