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Up to: Syndromic disease · Partial deletion of the long arm of chromosome 5 · PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
A rare, genetic neurological disease in which the cause of the disease is a 5q31.3 deletion encompassing all or part of PURA gene.
This condition has no sub-types.