Human genes for hydrolethalus syndrome
Hydrolethalus syndrome [DOID:0050779]
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.
Synonyms: hydrolethalus syndrome, DOID:0050779, hydrolethalus disease, hydrolethalus disorder, hydrolethalus syndromes ...
Linkouts: OMIM