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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-06-2011
Symbol HYSL2
Location 15q26.1
Name hydrolethalus syndrome
Corresponding gene KIF7
Other symbol(s) HLS
Main clinical features postaxial polydactyly of the hands, preaxial polydactyly of the feet, micrognathia and hydrocephaly or anencephaly with a key-hole defect of the occipital bone , PMID: 21552264
Genetic determination
Related entries HYSL1
Function/system disorder
Type malformation
Remark(s) hydrolethalus and acrocallosal syndromes are allelic conditions pertaining to the ciliopathy group