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Up to: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
A 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.
This condition has no sub-types.