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Human Disease
Coffin-Siris syndrome 11
- Term ID
- DOID:0112372
- Synonyms
-
- CSS11
- Definition
- A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. https://pubmed.ncbi.nlm.nih.gov/30879640/
- References
- Ontology
- Human Disease ( DOID:0112372 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| SMARCD1 | Coffin-Siris syndrome 11 | Coffin-Siris syndrome 11 | 618779 |
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Zebrafish Models