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.
MONDO:0015802
autosomal dominant non-syndromic intellectual disability
excluded_subClassOf
MONDO:1060108
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
is_a
MRD31
exact
PURA syndrome
exact
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
exact
autosomal dominant intellectual disability 31
exact
intellectual disability, autosomal dominant 31
related
intellectual disability, autosomal dominant type 31
exact
mental retardation, autosomal dominant 31
related
mental retardation, autosomal dominant type 31
exact
neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
exact