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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 21-03-2012
Symbol CSSSCA4
Location 19p13.2
Name Coffin-Siris syndrome
Other name(s) fifth digit syndrome
Corresponding gene SMARCA4
Other symbol(s) CSS, MRD16
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 component of the SWI/SNF complex
    Remark(s)