Search Ontology:
Human Disease
Coffin-Siris syndrome 7
- Term ID
- DOID:0112369
- Synonyms
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- CSS7
- Definition
- A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. https://pubmed.ncbi.nlm.nih.gov/29429572/
- References
- Ontology
- Human Disease ( DOID:0112369 )
- is a type of
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Genes Involved
Zebrafish Models