/PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Rare Disease

MONDO:0014512

Also Known As

MRD31PURA syndromePURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationautosomal dominant intellectual disability 31autosomal dominant mental retardation 31intellectual disability, autosomal dominant type 31mental retardation, autosomal dominant type 31neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficultiesautosomal dominant non-syndromic intellectual disability 31intellectual disability, autosomal dominant 31mental retardation, autosomal dominant 31

Definition

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.

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Associated Genes

PURA ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

Related Diseases

severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

MONDO:0017811

Rare

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