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

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD31 patients manifest neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay.
Disease Ontology Description An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PURA on chromosome 5q31.3.
Mondo Term and Equivalent IDs
MONDO:0014512:  PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Orphanet:438216: 
UMLS:C4015357: 
UMLS:CN237609: