severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Download download
Disease Summary help help Associated Targets (0) Explore Associated Targets list Mondo Term and Equivalent IDs MONDO:0017811: severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Orphanet:314655: SCTID:768555009: open_in_newUMLS:CN203780: open_in_new
Disease Hierarchy help helpParentsgenetic nervous system disorder (6096)Tbio4331Tchem803Tdark604Tclin358genetic multiple congenital anomalies/dysmorphic syndrome (671)Tbio514Tchem92Tclin40Tdark25partial deletion of the long arm of chromosome 5 (6)Tbio5Tchem1PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome (1)Tbio1Children