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 9 ID (Ontology) DOID:0070057 (Human Disease)
Definition An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2.
Also Known As "autosomal dominant mental retardation 27" ; "autosomal dominant non-syndromic intellectual disability 27" ; "MRD27"
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 Coffin-Siris syndrome 9       1
 for disease ribbon | Coffin-Siris syndrome 9       1
 model of | Coffin-Siris syndrome 9       1
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autosomal dominant intellectual developmental disorder__
syndrome________________________________________________|
                                                        Coffin-Siris syndrome
                                                         |__Coffin-Siris syndrome 9  1 rec.
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Synonyms
  • "autosomal dominant mental retardation 27" EXACT
    "autosomal dominant non-syndromic intellectual disability 27" EXACT
    "MRD27" EXACT OMO:0003012
Secondary IDs
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MIM:615866