Developmental and Epileptic Encephalopathy 60 (DEE60)

Developmental and Epileptic Encephalopathy 60(来自ICD-11)
别称:
Epileptic Encephalopathy, Early Infantile, 60
Dee60
Developmental and Epileptic Encephalopathy, 60
Eiee60
Early Infantile Epileptic Encephalopathy 60
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Developmental and Epileptic Encephalopathy 60, also known as epileptic encephalopathy, early infantile, 60, is related to torticollis and reflex epilepsy. An important gene associated with Developmental and Epileptic Encephalopathy 60 is CNPY3 (Canopy FGF Signaling Regulator 3), and among its related pathways/superpathways is Rett syndrome causing genes. Affiliated tissues include brain, and related phenotypes are seizure and global developmental delay
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参考文献
MALACARDS
AR
Unknown
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12
253
1

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