Search Ontology:
Human Disease

cerebrocostomandibular syndrome

Term ID
DOID:0111248
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. (2)
References
Ontology
Human Disease   ( DOID:0111248 )
Relationships
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Genes Involved
Zebrafish Models