Cdkl5-Deficiency Disorder (CDD)

Cdkl5-Deficiency Disorder(来自ICD-11)
别称:
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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参考文献
MALACARDS
--
Unknown
1-9/1000000
1
17
9

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