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ENDevelopmental and Epileptic Encephalopathy 29 (DEE29)
Alias:
Dee29
Developmental and Epileptic Encephalopathy, 29
Epileptic Encephalopathy, Early Infantile, 29
Eiee29
Encephalopathy, Developmental and Epileptic, Type 29
Early Infantile Epileptic Encephalopathy 29
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Developmental and Epileptic Encephalopathy 29, also known as dee29, is related to usher syndrome, type iiib and charcot-marie-tooth disease, axonal, type 2w. An important gene associated with Developmental and Epileptic Encephalopathy 29 is AARS1 (Alanyl-TRNA Synthetase 1), and among its related pathways/superpathways are Metabolism of proteins and Metabolism. Affiliated tissues include brain, and related phenotypes are spasticity and failure to thrive
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