ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
MONDO:0009147Mondo
Findings
No curated finding names ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 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
- Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Conical toothHPOHP:0000698
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Heat intoleranceHPOHP:0002046
- 1 of 1 reported patient
- HypohidrosisHPOHP:0000966
- 1 of 1 reported patient
- MicrodontiaHPOHP:0000691
- 1 of 1 reported patient
- OligodontiaHPOHP:0000677
- 1 of 1 reported patient
- Periorbital hyperpigmentationHPOHP:0001106
- 1 of 1 reported patient
- Periorbital wrinklesHPOHP:0000607
- 1 of 1 reported patient
- Sparse eyebrowHPOHP:0045075
- 1 of 1 reported patient
- Sparse eyelashesHPOHP:0000653
- 1 of 1 reported patient
- Sparse hairHPOHP:0008070
- 1 of 1 reported patient
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
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2024
- Definitive · G2P · Autosomal dominant · 2024
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021