ectodermal dysplasia 15, hypohidrotic/hair type
MONDO:0032804Mondo
Findings
No curated finding names ectodermal dysplasia 15, hypohidrotic/hair type 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
- Congenital onset
HPO, annotations 2026-09-02
Features
12 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.
- BlepharitisHPOHP:0000498
- 2 of 2 reported patients · Congenital onset
- Dry skinHPOHP:0000958
- 2 of 2 reported patients · Congenital onset
- Eczematoid dermatitisHPOHP:0000964
- 2 of 2 reported patients
- HypohidrosisHPOHP:0000966
- 2 of 2 reported patients
- PhotophobiaHPOHP:0000613
- 2 of 2 reported patients · Congenital onset
- Slow-growing hairHPOHP:0002217
- 2 of 2 reported patients
- Sparse body hairHPOHP:0002231
- 2 of 2 reported patients
- Sparse eyelashesHPOHP:0000653
- 2 of 2 reported patients
- Sparse hairHPOHP:0008070
- 3 of 3 reported patients
- Sparse scalp hairHPOHP:0002209
- 2 of 2 reported patients · Childhood onset
- PruritusHPOHP:0000989
- 1 of 2 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 0 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.
- CST6HGNC:2478
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of