Mutations in WDR45B, which encodes WIPI3, also cause a complex neurodevelopmental disorder called El-Hattab-Alkuraya syndrome (OMIM#617977) (36–38), while mutations in WIPI2 cause a neurodevelopmental disorder accompanied by skeletal and cardiac abnormalities (OMIM#618453) (39,40). The gene discussed is WDR45B; the disease is neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures.