has material basis in germline mutation in disease arises from structure disease arises from alteration in structure PURA 5q31.3 (Human) syndromic disease partial deletion of the long arm of chromosome 5 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/8953 https://www.malacards.org/card/5q313_microdeletion_syndrome A rare, genetic neurological disease in which the cause of the disease is a 5q31.3 deletion encompassing all or part of PURA gene. MONDO:0017811 UMLS:C4708510 Del(5)(q31.3) MEDGEN:1636705 Orphanet:314655 GARD:0021383 5q31.3 microdeletion syndrome SCTID:768555009 monosomy 5q31.3 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome