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Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
rareA rare, genetic neurological disease in which the cause of the disease is a 5q31.3 deletion encompassing all or part of PURA gene.
- Identifiers
- MONDO:0017811 Orphanet:314655
- Causal genes
- PURA
- Part of
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndromePartial deletion of the long arm of chromosome 5Syndromic disease
- Also known as
- 5q31.3 microdeletion syndrome · Del(5)(q31.3) · monosomy 5q31.3
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