| Metadata | |
|---|---|
| ID | DOID:0111248 |
| Name | cerebrocostomandibular syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/19008299, https://www.ncbi.nlm.nih.gov/pubmed/25047197 |
| Xrefs |
SNOMEDCT_US_2023_03_01:51780007 |
| Subsets |
DO_rare_slim |
| Synonyms |
CCM syndrome [EXACT] CCMS [EXACT] cerebro-costo-mandibular syndrome [EXACT] rib gap defects with micrognathia [EXACT] |
| Parent Relationships |
is_a syndrome |