OBO ID: DOID:0050779
Term Name: hydrolethalus syndrome Search Ontology:
Synonyms:
  • Salonen-Herva-Norio syndrome
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. (3)
References:
Ontology: Human Disease   (DOID:0050779)
OTHER hydrolethalus syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)