ZFIN Human Disease: cerebrocostomandibular syndrome

OBO ID: DOID:0111248

Term Name:	cerebrocostomandibular syndrome		Search Ontology:
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 OMIM:117650 ORDO:1393 SNOMEDCT_US_2023_03_01:51780007 UMLS_CUI:C0265342
Ontology:	Human Disease ( DOID:0111248 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER cerebrocostomandibular syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SNRPB		Cerebrocostomandibular syndrome

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None