OBO ID: DOID:0112371 |
Term Name: | Coffin-Siris syndrome 10 | Search Ontology: | |
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Definition: | A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. https://pubmed.ncbi.nlm.nih.gov/30661772/ | ||
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Ontology: | Human Disease ( DOID:0112371 ) |
OTHER Coffin-Siris syndrome 10 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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