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Disease Ontology Browser
Snijders Blok-Campeau syndrome (DOID:0070668)
Alliance: disease page
Synonyms: SNIBCPS
Alt IDs: OMIM:618205, MESH:C000729467, ORDO:599082, UMLS_CUI:C4748701
Definition: An autosomal dominant intellectual developmental disorder characterized by global developmental delay with delayed speech acquisition, impaired intellectual development of variable severity, and hypotonia that has_material_basis_in heterozygous mutation in the CHD3 gene on chromosome 17p13.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
01/28/2026
MGI 6.24 		The Jackson Laboratory