Search Ontology:
Human Disease
Coffin-Siris syndrome 12
- Term ID
- DOID:0112370
- Synonyms
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- CSS12
- Definition
- A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. https://pubmed.ncbi.nlm.nih.gov/33232675/
- References
- Ontology
- Human Disease ( DOID:0112370 )
- is a type of
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Genes Involved
Zebrafish Models