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

• GARD:6026
• MESH:C562538
• MIM:117650
• ORDO:1393
• SNOMEDCT_US_2023_03_01:51780007
• UMLS_CUI:C0265342

Ontology

Human Disease   ( DOID:0111248 )