Statements (37)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
females
males |
| gptkbp:alsoKnownAs |
gptkb:CDD
CDKL5 disorder |
| gptkbp:category |
neurological disorder
Epilepsy |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2004
|
| gptkbp:frequency |
rare
|
| gptkbp:hasOrphanetID |
3302
|
| https://www.w3.org/2000/01/rdf-schema#label |
CDKL5 deficiency disorder
|
| gptkbp:ICD-10_code |
G40.42
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:locatedOnChromosome |
gptkb:Xp22
|
| gptkbp:mutationAssociatedWith |
CDKL5 gene
|
| gptkbp:OMIM |
300203
|
| gptkbp:parentOrganization |
CDKL5 Alliance
International Foundation for CDKL5 Research |
| gptkbp:relatedTo |
gptkb:Rett_syndrome
|
| gptkbp:studiedBy |
clinical trials
gene therapy |
| gptkbp:symptom |
hypotonia
intellectual disability sleep disturbances developmental delay gastrointestinal problems motor impairment cortical visual impairment early-onset seizures |
| gptkbp:treatment |
occupational therapy
physical therapy speech therapy antiepileptic drugs supportive therapy |
| gptkbp:bfsParent |
gptkb:Rett_syndrome
|
| gptkbp:bfsLayer |
7
|