Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Findings
No curated finding names Diamond-Blackfan anemia 15 with mandibulofacial dysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.
Definition from the Mondo Disease Ontology (MONDO:0011639), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
16 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.
- Cleft palateHPOHP:0000175
- 2 of 2 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Macrocytic anemiaHPOHP:0001972
- 2 of 2 reported patients
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
- MicrotiaHPOHP:0008551
- 2 of 2 reported patients
- Midface retrusionHPOHP:0011800
Show the remaining 4
- Posteriorly rotated earsHPOHP:0000358
- 1 of 2 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 2 reported patients
- Sparse eyebrowHPOHP:0045075
- 1 of 2 reported patients
- Stenosis of the external auditory canalHPOHP:0000402
- 1 of 2 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.
- RPS28HGNC:10418
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
6 names
Resolves to: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- Also called
- Diamond Blackfan anaemia 15 with mandibulofacial dysostosisDiamond Blackfan anemia 15 with mandibulofacial dysostosisDiamond-Blackfan anaemia caused by mutation in RPS28Diamond-Blackfan anemia caused by mutation in RPS28RPS28 Diamond-Blackfan anaemiaRPS28 Diamond-Blackfan anemia