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GENATLAS PHENOTYPE

last update : 21-03-2012

Symbol	CSSSB1
Location	22q11.23
Name	Coffin-siris syndrome
Other name(s)	fifth digit syndrome
Corresponding gene	SMARCB1
Other symbol(s)	CSS, MRD15
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)