hypotrichosis 11
MONDO:0014027Mondo
Findings
No curated finding names hypotrichosis 11 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 SNRPE gene.
Definition from the Mondo Disease Ontology (MONDO:0014027), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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
- 8 of 8 reported patients
- Alopecia universalisHPOHP:0002289
- 2 of 8 reported patients · Congenital onset
- Absent axillary hairHPOHP:0002221
- Aplasia/Hypoplasia of the eyebrowHPOHP:0100840
- Sparse or absent eyelashesHPOHP:0200102
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.
- SNRPEHGNC:11161
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: hypotrichosis 11
- Also called
- hypotrichosis caused by mutation in SNRPEhypotrichosis type 11HYPT11SNRPE hypotrichosis