CDKL5 deficiency disorder

URI: https://gptkb.org/entity/CDKL5_deficiency_disorder

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder
gptkbp:affects	females males
gptkbp:alsoKnownAs	gptkb:CDD CDKL5 disorder
gptkbp:category	gptkb:Epilepsy gptkb:neurological_disorder
gptkbp:diagnosedBy	genetic testing
gptkbp:firstDescribed	2004
gptkbp:frequency	rare
gptkbp:hasOrphanetID	3302
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	gptkb:gene_therapy clinical trials
gptkbp:symptom	gptkb:intellectual_disability hypotonia 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
https://www.w3.org/2000/01/rdf-schema#label	CDKL5 deficiency disorder