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 7 ID (Ontology) DOID:0112369 (Human Disease)
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.
Also Known As "CSS7"
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 Genes
 Coffin-Siris syndrome 7       2
 for disease ribbon | Coffin-Siris syndrome 7       2
 model of | Coffin-Siris syndrome 7       2
Spanning Tree (Parents/Children)
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autosomal dominant intellectual developmental disorder__
syndrome________________________________________________|
                                                        Coffin-Siris syndrome
                                                         |__Coffin-Siris syndrome 7  2 rec.
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Synonyms
  • "CSS7" EXACT OMO:0003012
Secondary IDs
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MIM:618027