Details of Disease

General Information of Disease (ID: DIS168GT)

• Disease Name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
• Synonyms: autosomal dominant non-syndromic intellectual disability 31; intellectual disability, autosomal dominant 31; mental retardation, autosomal dominant 31; neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties; MRD31; intellectual disability, autosomal dominant type 31; mental retardation, autosomal dominant type 31; autosomal dominant intellectual disability 31; PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation; autosomal dominant mental retardation 31
• Definition: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, 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.
• Disease Hierarchy:
  DIS3HIWD: Autosomal dominant disease
  DIS168GT: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PURA	OT975ELW	Strong	Autosomal dominant	[1]

References

• [1] Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 6;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. Epub 2014 Oct 16.