Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

Term ID

DOID:0111894

Synonyms

• DBA15

Definition

A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. https://pubmed.ncbi.nlm.nih.gov/24942156/

References

• OMIM:606164

Ontology

Human Disease   ( DOID:0111894 )