Term Name: | cerebrocostomandibular syndrome |
---|---|
Synonyms: | CCM syndrome, CCMS, cerebro-costo-mandibular syndrome, rib gap defects with micrognathia |
Definition: | A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. |
Ontology: | Human Disease [DOID:0111248] ( DOID:0111248 ) |