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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 15-02-2013
Symbol KFS2
Location 17q21.31
Name Klippel-Feil syndrome
Corresponding gene MEOX1
Other symbol(s) KFM, KFS
Main clinical features with cervical vertebral fusions associated to brachydactyly, type A1
Genetic determination autosomal recessive
Function/system disorder osteo-articular
congenital malformation
Type malformation
Remark(s)