| Metadata | |
|---|---|
| ID | DOID:0050779 |
| Name | hydrolethalus 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. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33, https://www.ncbi.nlm.nih.gov/pubmed/15843405 |
| Xrefs | |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Synonyms |
Salonen-Herva-Norio syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |