Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:nervous_system
muscular system |
| gptkbp:alsoKnownAs |
PURA-related neurodevelopmental disorder
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2014
|
| gptkbp:frequency |
less than 500 cases reported worldwide
|
| gptkbp:hasNoCure |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
PURA syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
PURA gene
|
| gptkbp:namedAfter |
PURA gene
|
| gptkbp:OMIM |
616158
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
respiratory problems
hypotonia intellectual disability movement disorders seizures developmental delay feeding difficulties |
| gptkbp:treatment |
supportive care
symptom management |
| gptkbp:bfsParent |
gptkb:PURA
|
| gptkbp:bfsLayer |
8
|