ATP7B and phenylketonuria: Other disease conditions with founder mutations identified in this cohort includes carnitine deficiency (SLC22A5), FKRP-related disorders (FKRP), glutaric acidemia IIC (ETFDH), Pompe disease (GAA), Hb Beta chain-related hemoglobinopathy (HBB), infantile neuroaxonal dystrophy 1 (PLA2G6), phenylketonuria (PAH), and Wilson disease (ATP7B).