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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 12/11/2008
Symbol SPCHSL
Location 7q35
Name language impairment susceptibility
Corresponding gene CNTNAP2
Main clinical features endophenotype of nonsense-word repetition in children with specific language impairment
Genetic determination not applicable
Related entries SPCH1
Function/system disorder
Type other
Gene product
Name CNTNAP2, member of the neurexin superfamily of transmembrane proteins
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
other     polymorphisms in the exon 13-15 region of CNTNAP2
Remark(s) CNTNAP2 is a direct target of FOXP2