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.

Also known as: MRD31, PURA syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation, autosomal dominant intellectual disability 31, intellectual disability, autosomal dominant type 31, mental retardation, autosomal dominant type 31, neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, autosomal dominant non-syndromic intellectual disability 31

0 clinical trials for this condition and its sub-types, 0 tagged with PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation itself.