Birk-Barel Syndrome

About the Disease
Birk-Barel Syndrome, also known as birk-barel mental retardation dysmorphism syndrome, is related to kcnk9 imprinting syndrome and hypotonia. An important gene associated with Birk-Barel Syndrome is KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Transmission across Chemical Synapses. Affiliated tissues include cortex, and related phenotypes are high palate and global developmental delay

Common Targets
KCNK9

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