PRUNE1 and microcephaly: PRUNE1 was recently described to cause a novel autosomal recessive disease (MIM 617481) characterized by severe global developmental delay, microcephaly, dysmorphic features, muscle tone abnormalities, and variable brain abnormalities such as delayed myelination, thin corpus callosum or cerebellar hypoplasia, but several patients are also reported to have early-onset seizures (see also Supplementary Table S8) [30].