Differential diagnosis This includes Chediak-Higashi syndrome and Elejalde syndrome (neuroectodermal melanolysosomal disease).
Griscelli syndrome type 2
Maroteaux–Lamy syndrome
Gianotti–Crosti syndrome
Laurence–Moon syndrome
Coffin–Siris syndrome
Barakat-Perenthaler syndrome
MODY 1
Rosselli–Gulienetti syndrome