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 )

Relationships
is a type of: autosomal dominant disease syndrome