cerebrocostomandibular syndrome (DOID:0111248)
Alliance: disease page
Synonyms: CCM syndrome; CCMS; cerebro-costo-mandibular syndrome; rib gap defects with micrognathia
Alt IDs: OMIM:117650, MESH:C562538, ORDO:1393, UMLS_CUI:C0265342
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.