Indeed, germline mutations in KAT6A have been reported to link to neurodevelopmental disease called KAT6A syndrome or Arboleda‐Tham syndrome (OMIM #616268), while KAT6B is mainly associated with genitopatellar syndrome (GPS) (OMIM #606170) and Say–Barber–Biesecker–Young–Simpson Syndrome (SBBYSS) (OMIM #603736) [138, 139]. This evidence concerns the gene KAT6B and gray platelet syndrome.