Such findings include two compound heterozygous variants in POMGNT1 in two male siblings (patients 6 and 7), with typical MRI findings of patients with POMGNT1 mutations (S1 Fig), a homozygous variant in PCNT in patient 1 who was subsequently diagnosed with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII) and patient 2 with a variant in UBE3A causative for Angelman syndrome. Here, UBE3A is linked to microcephalic osteodysplastic primordial dwarfism type II.