has characteristic has characteristic has material basis in germline mutation in PURA PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/autosomal_dominant_intellectual_developmental_disorder_31 https://www.malacards.org/card/neurodevelopmental_disorder_with_neonatal_respiratory_insufficiency_hypotonia_and_feeding_difficulties PURA syndrome OMIM:616158 MONDO:0014512 intellectual disability, autosomal dominant 31 intellectual disability, autosomal dominant type 31 GARD:0017740 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties mental retardation, autosomal dominant type 31 DOID:0070061 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. autosomal dominant intellectual disability 31 Orphanet:438216 autosomal dominant non-syndromic intellectual disability 31 MRD31 mental retardation, autosomal dominant 31 autosomal dominant non-syndromic intellectual disability PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome point_mutation