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References OMIM Gene GeneReviews HGMD HGNC
last update : 13-05-2019
Symbol CSSSCE1
Location 17q21.2
Name Coffin-Siris syndrome
Other name(s)
  • fifth digit syndrome
  • Coffin-Siris syndrome 5
  • Corresponding gene SMARCE1
    Other symbol(s) SCC, CSS5
    Main clinical features
  • mild to severe mental retardation, hypoplastic fifth fingers and nails, hirsutism with sparse scalp hair and coarse facial features (thick eyebrows, flat nasal bridge, anteverted and wide nasal tip), agenesis of corpus callosum (PMID: 22426308))
  • in any cases, Angelman-like syndrome
  • Genetic determination autosomal dominant
    Function/system disorder
    Type MCA/MR
    Gene product
    Name component of the SWI/SNF complex