Diamond-Blackfan anemia 16
MONDO:0044309Mondo
Findings
No curated finding names Diamond-Blackfan anemia 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
3 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
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Pulmonic stenosisHPOHP:0001642
- 1 of 1 reported patient
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.
- RPL27HGNC:10328
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of