CDKL5 deficiency disorder
http://dbpedia.org/resource/CDKL5_deficiency_disorder an entity of type: Thing
CDKL5 deficiency disorder (CDD) is a rare genetic disorder caused by pathogenic variants in the gene CDKL5.
rdf:langString
rdf:langString
CDKL5 deficiency disorder
rdf:langString
CDKL5 deficiency disorder
xsd:integer
68009770
xsd:integer
1105089448
rdf:langString
Genetic testing
rdf:langString
rdf:langString
G40.42
xsd:integer
300672
rdf:langString
Refractory epilepsy, Hypotonia, developmental, intellectual, and motor disabilities with little or no speech, and cortical visual impairment
rdf:langString
Antiseizure medications
rdf:langString
Pathogenic variants in the gene CDKL5
xsd:integer
1
rdf:langString
CDKL5 deficiency disorder (CDD) is a rare genetic disorder caused by pathogenic variants in the gene CDKL5.
xsd:nonNegativeInteger
22294
xsd:string
G40.42
xsd:integer
300672