ectodermal dysplasia 9, hair/nail type
Findings
No curated finding names ectodermal dysplasia 9, hair/nail type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.
Definition from the Mondo Disease Ontology (MONDO:0013976), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
17 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
- 1 of 1 reported patient
- Absent eyelashesHPOHP:0000561
- 4 of 4 reported patients
- Absent hairHPOHP:0002298
- 1 of 1 reported patient · Congenital onset
- AtrichiaHPOHP:0500262
- 6 of 6 reported patients
- Ectodermal dysplasiaHPOHP:0000968
- 3 of 3 reported patients
- Nail dystrophyHPOHP:0008404
- 3 of 3 reported patients
- 1 of 1 reported patient · Congenital onset
- Small nail
Show the remaining 5
- Abnormality of the dentitionHPOHP:0000164
- 0 of 6 reported patients
- Abnormality of the eyeHPOHP:0000478
- 0 of 3 reported patients
- Abnormality of the nervous systemHPOHP:0000707
- 0 of 3 reported patients
- Abnormality of the skeletal systemHPOHP:0000924
- 0 of 3 reported patients
- Concave nailHPOHP:0001598
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.
- HOXC13HGNC:5125
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: ectodermal dysplasia 9, hair/nail type
- Also called
- HOXC13 pure hair and nail ectodermal dysplasiapure hair and nail ectodermal dysplasia caused by mutation in HOXC13