Diamond-Blackfan anemia 20
MONDO:0032670Mondo
Findings
No curated finding names Diamond-Blackfan anemia 20 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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.
- AnemiaHPOHP:0001903
- 3 of 3 reported patients · Infantile onset
- Acetabular dysplasiaHPOHP:0008807
- 1 of 3 reported patients
- Total anomalous pulmonary venous returnHPOHP:0005160
- 1 of 3 reported patients · Congenital onset
- Erythroid hypoplasiaHPOHP:0012133
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.
- RPS15AHGNC:10389
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of