UBE3B and oculocerebrofacial syndrome, Kaufman type: Bovine PIRM resembles the human autosomal recessive neurodevelopmental disorder Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome (MIM 615057, MIM 244450), caused by ubiquitin protein ligase E3B (UBE3B) mutations [4–6].