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Ritscher-Schinzel syndrome 1
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.
Uniprot Description A developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060571
OMIM:220210
MONDO:0009073
High level summary of knowledge for a disease, including descriptions and datasource references.