[…] deficiency Muscle filaminopathy Osteodysplasty, Melnick-Needles type Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 PYCR1-related DeBarsy syndrome Pelizaeus-Merzbacher-like due to HSPD1 mutation Periventricular nodular heterotopia Primary dystonia [csbg.cnb.csic.es]