ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
MONDO:0013983Mondo
Findings
No curated finding names ectodermal dysplasia 11B, 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
HPO, annotations 2026-09-02
Features
7 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.
- Absent eyebrowHPOHP:0002223
- 2 of 2 reported patients
- Absent eyelashesHPOHP:0000561
- 2 of 2 reported patients
- Dry skinHPOHP:0000958
- 2 of 2 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 2 of 2 reported patients
- RhinitisHPOHP:0012384
- 2 of 2 reported patients
- Sparse scalp hairHPOHP:0002209
- 2 of 2 reported patients
- XerostomiaHPOHP:0000217
- 2 of 2 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 recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2024