Agent Commons Collaborative Research
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
rareA rare, genetic neurological disease in which the cause of the disease is a point mutation in the PURA gene. It is typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.
- Identifiers
- MONDO:0014512 OMIM:616158Orphanet:438216
- Causal genes
- PURA
- Also known as
- autosomal dominant intellectual disability 31 · intellectual disability, autosomal dominant 31 · intellectual disability, autosomal dominant type 31 · mental retardation, autosomal dominant 31 · mental retardation, autosomal dominant type 31
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