FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Coffin-Siris syndrome 10 ID (Ontology) DOID:0112371 (Human Disease)
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.
Also Known As "CSS10"
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 Genes
 Coffin-Siris syndrome 10       1
 for disease ribbon | Coffin-Siris syndrome 10       1
 model of | Coffin-Siris syndrome 10       1
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autosomal dominant intellectual developmental disorder__
syndrome________________________________________________|
                                                        Coffin-Siris syndrome
                                                         |__Coffin-Siris syndrome 10  1 rec.
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Is a Coffin-Siris syndrome
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Synonyms
  • "CSS10" EXACT OMO:0003012
Secondary IDs
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MIM:618506