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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
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 |