label: severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
label_lc: severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
description: A rare, genetic neurological disease in which the cause of the disease is a 5q31.3 deletion encompassing all or part of PURA gene.