Search Ontology:
Human Disease

hydrolethalus syndrome

Term ID
DOID:0050779
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. (3)
References
Ontology
Human Disease   ( DOID:0050779 )
Relationships
is a type of
has subtype
Other Pages
Genes Involved
Zebrafish Models