hydrolethalus syndrome
Information
- Disease name
- hydrolethalus syndrome
- Disease ID
- DOID:0050779
- Description
- "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." [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33, url:https\://www.ncbi.nlm.nih.gov/pubmed/15843405]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:6683
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q87.8
- Cross Reference ID (Disease Ontology)
- MESH:C536079
- Cross Reference ID (Disease Ontology)
- MIM:PS236680
- Cross Reference ID (Disease Ontology)
- ORDO:2189
- Exact Synonym (Disease Ontology)
- Salonen-Herva-Norio syndrome
- OMIM Phenotype Series Number (OMIM)
- PS236680