Birk-Barel Syndrome (BIBARS)

Birk-Barel Syndrome, also known as birk-barel mental retardation dysmorphism syndrome, is related to kcnk9 imprinting syndrome and intellectual disability, birk-barel type. 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 global developmental delay and feeding difficulties in infancy