ectodermal dysplasia and immunodeficiency 2
MONDO:0012806Mondo
Findings
No curated finding names ectodermal dysplasia and immunodeficiency 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
8 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.
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient · Infantile onset
- Conical toothHPOHP:0000698
- 1 of 1 reported patient
- Dry skinHPOHP:0000958
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient
- Sparse scalp hairHPOHP:0002209
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 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.
- NFKBIAHGNC:7797
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: ectodermal dysplasia and immunodeficiency 2
- Also called
- ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominantEPAID2