| Term Name: | Snijders Blok-Campeau syndrome |
|---|---|
| Synonyms: | SNIBCPS |
| 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. |
| Ontology: | Human Disease [DOID:0070668] ( DOID:0070668 ) |