ATP8A2, another P4-ATPase highly expressed in the brain, has been implicated in a recessive disorder characterized by cerebellar ataxia, ID, and disequilibrium syndrome (CAMRQ, MIM 615268), or severe hypotonia, ID, and optic atrophy with or without encephalopathy32–36. The gene discussed is ATP8A2; the disease is optic atrophy.