RNU4ATAC and cerebral malformation: Typical MOPD1 is clearly distinguishable from Roifman Syndrome, as it is characterized by pre- and postnatal lethality, severe prenatal microcephaly and brain malformations, intractable epilepsy, short and bowed limbs, absent or sparse hair, neuroendocrine dysfunction and distinct facial features including proptotic eyes, large/prominent nose or downturned nasal tip and micrognathia13, 14 (Table 2).