Term Name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
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.
Ontology: Human Disease [DOID:0111894]   ( DOID:0111894 )

Relationships
is a type of: autosomal dominant disease Diamond-Blackfan anemia