ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
MONDO:0032584Mondo
Findings
No curated finding names ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 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
- 5 of 5 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 5 of 5 reported patients
- HypodontiaHPOHP:0000668
- 5 of 5 reported patients
- Low insertion of columellaHPOHP:0010763
- 5 of 5 reported patients
- Oval faceHPOHP:0000300
- 5 of 5 reported patients
- Sparse scalp hairHPOHP:0002209
- 5 of 5 reported patients
- Thick vermilion borderHPOHP:0012471
- 5 of 5 reported patients
- HypohidrosisHPOHP:0000966
- 4 of 5 reported patients
- Hearing abnormalityHPOHP:0000364
- 0 of 5 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.
- TSPEARHGNC:1268
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of