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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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0070061
OMIM:616158
Orphanet:438216
UMLS:C4015357
UMLS:CN237609
MONDO:0014512
High level summary of knowledge for a disease, including descriptions and datasource references.