Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Ritscher-Schinzel syndrome 1  
Ritscher-Schinzel syndrome 2  
Ritscher-Schinzel Syndrome 3  
Ritscher-Schinzel Syndrome 4  
Characterized by a constellation of congenital anomalies, including dysmorphic craniofacial features and structural brain anomalies, such as Dandy-Walker malformation, hindbrain malformations, or agenesis of the corpus callosum, associated with global developmental delay and impaired intellectual development. Caused by heterozygous mutation in the DPYSL5 gene on chromosome 2p23. (OMIM)

Synonyms
Exact Synonyms: RTSC4
Primary IDs: MIM:619435

paths to the root