Search Ontology:
Human Disease
Coffin-Siris syndrome 8
- Term ID
- DOID:0112367
- Synonyms
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- CSS8
- Definition
- A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/30580808/
- References
- Ontology
- Human Disease ( DOID:0112367 )
- is a type of
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Genes Involved
Zebrafish Models