hypotrichosis 12
MONDO:0014384Mondo
Findings
No curated finding names hypotrichosis 12 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 RPL21 gene.
Definition from the Mondo Disease Ontology (MONDO:0014384), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 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.
- Dry hairHPOHP:0011359
- 13 of 13 reported patients
- Sparse scalp hairHPOHP:0002209
- 13 of 13 reported patients
- Sparse axillary hairHPOHP:0002215
- 12 of 13 reported patients
- Sparse or absent eyelashesHPOHP:0200102
- 12 of 13 reported patients
- Sparse pubic hairHPOHP:0002225
- 10 of 12 reported patients
- Aplasia/Hypoplasia of the eyebrowHPOHP:0100840
- 10 of 13 reported patients
- Abnormal nail morphologyHPO
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.
- RPL21HGNC:10313
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
4 names
Resolves to: hypotrichosis 12
- Also called
- hypotrichosis caused by mutation in RPL21hypotrichosis type 12HYPT12RPL21 hypotrichosis