It has been well-documented that dysfunctions of the E3 ligase UBE3B usually lead to Kaufman Oculocerebrofacial Syndrome (KOS), an autosomal recessive developmental disorder characterized by hypotonia, developmental delay, microcephaly, intellectual retardation, distinctive facial dysmorphic features, and low cholesterol levels [1–3]. This evidence concerns the gene UBE3B and oculocerebrofacial syndrome, Kaufman type.