ectodermal dysplasia 13, hair/tooth type
MONDO:0044305Mondo
Findings
No curated finding names ectodermal dysplasia 13, hair/tooth type 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
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.
- Brittle hairHPOHP:0002299
- 56 of 56 reported patients
- OligodontiaHPOHP:0000677
- 56 of 56 reported patients
- Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
- HypertelorismHPOHP:0000316
- Occasional (5% to 29% of cases)
- Thick vermilion borderHPOHP:0012471
- Occasional (5% to 29% of cases)
- Wide nasal bridgeHPOHP:0000431
- Occasional (5% to 29% of cases)
- Ectodermal dysplasiaHPOHP:0000968
- 11 of 56 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- Low anterior hairlineHPOHP:0000294
- Sparse eyelashesHPOHP:0000653
- Thin eyebrowHPOHP:0045074
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.
- KREMEN1HGNC:17550
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2022
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of