hydrolethalus syndrome (DOID:0050779)
Alliance: disease page
Synonyms: Salonen-Herva-Norio syndrome
Alt IDs: ICD10CM:Q87.8, MESH:C536079, OMIM:PS236680, ORDO:2189
Definition: A syndrome characterized by mulitple 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.