WIPI2: Intellectual developmental disorder with short stature and variable skeletal anomalies # OMIM 618453 AR; ACTB: Baraitser-Winter syndrome 1 OMIM 243310 AD; RNF216: Cerebellar ataxia and hypogonadotropic hypogonadism OMIM 212840 AR; PMS2: Mismatch repair cancer syndrome 4 OMIM 619101 AR; AIMP2: Leukodystrophy, hypomyelinating, 17 OMIM 618006 AR; RAC1:Mental retardation, autosomal dominant 48 OMIM 617751 AD; KDELR2: Osteogenesis imperfecta 21 619131 AR. The gene discussed is KDELR2; the disease is cerebellar ataxia.