Cdkl5-Deficiency Disorder (CDD)

Alias:
Cdkl5 Deficiency Disorder
Cdkl5 Disorder
Cdd
Early Infantile Epileptic Encephalopathy 2
Cdkl5-Related Epileptic Encephalopathy
Cdkl5-Related Epilepsy
Cdkl5 Encephalopathy
Cdkl5 Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cdkl5-Deficiency Disorder, also known as cdkl5 deficiency disorder, is related to craniodiaphyseal dysplasia, autosomal dominant and craniodiaphyseal dysplasia. An important gene associated with Cdkl5-Deficiency Disorder is CDKL5 (Cyclin Dependent Kinase Like 5). The drugs Eltanolone and Fenfluramine have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are generalized tonic seizure and gait disturbance
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
1-9/100000
1
17
9

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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