Human Elejalde syndrome and Griscelli syndrome type 1 [23]–[25] as well as the rodent dilute lethal and dilute opisthotonus phenotypes [26], [27] are characterised by hypomelanosis, severe seizures, opisthotonus and premature death and are due to a lack of functional myosin Va. Here, MYO5A is linked to acrocephalopolydactyly.