| Metadata | |
|---|---|
| ID | DOID:0070668 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070668 Copy |
| Name | Snijders Blok-Campeau syndrome |
| 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. https://pmc.ncbi.nlm.nih.gov/articles/PMC7608102/, https://pmc.ncbi.nlm.nih.gov/articles/PMC6218476/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:1179408008 |
| SKOS |
exactMatch ORDO:599082 exactMatch MIM:618205 exactMatch UMLS_CUI:C4748701 exactMatch MESH:C000729467 |
| Subsets |
DO_rare_slim |
| Synonyms |
SNIBCPS [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |