Term Name:	hydrolethalus syndrome
Synonyms:	Salonen-Herva-Norio syndrome
Definition:	A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
Ontology:	Human Disease [DOID:0050779]   ( DOID:0050779 )