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References OMIM Gene GeneReviews HGMD HGNC
last update : 21-03-2012
Symbol CSSSA1B
Location 6q25.3
Name Coffin-Siris syndrome
Other name(s) fifth digit syndrome
Corresponding gene ARID1B
Other symbol(s) CSS
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
  • Genetic determination autosomal dominant
    Function/system disorder
    Type MCA/MR
    Gene product
    Name components of the SWI/SNF complex