hypotrichosis 13
MONDO:0014390Mondo
Findings
No curated finding names hypotrichosis 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.
Definition from the Mondo Disease Ontology (MONDO:0014390), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
6 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.
- Sparse eyelashesHPOHP:0000653
- 3 of 3 reported patients
- Sparse hairHPOHP:0008070
- 3 of 3 reported patients
- Woolly hairHPOHP:0002224
- 3 of 3 reported patients
- Abnormal dental morphologyHPOHP:0006482
- 0 of 3 reported patients
- Abnormal skin morphologyHPOHP:0011121
- 0 of 3 reported patients
- Abnormal sweat gland morphologyHPOHP:0000971
- 0 of 3 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.
- KRT71HGNC:28927
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017
- Limited · G2P · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: hypotrichosis 13
- Also called
- hypotrichosis caused by mutation in KRT71hypotrichosis type 13hypotrichosis with woolly hairhypotrichosis with wooly hairHYPT13KRT71 hypotrichosis