hypotrichosis 14
MONDO:0032649Mondo
Findings
No curated finding names hypotrichosis 14 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
5 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 hairHPOHP:0008070
- 6 of 6 reported patients
- Absent axillary hairHPOHP:0002221
- 4 of 6 reported patients
- Sparse pubic hairHPOHP:0002225
- 4 of 6 reported patients
- Short eyelashesHPOHP:0010764
- 2 of 6 reported patients
- Sparse body hairHPOHP:0002231
- 2 of 6 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.
- LSSHGNC:6708
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of