This homozygous 3-bp deletion in the promoter of the UFM1 gene has further been described in other patients with AR Hypomyelinating leukodystrophy type 14, presenting with microcephaly, hearing impairment, seizures, and global developmental delay, co-segregating in affected sibling and detected by genome sequencing (reported as NM_001286704.1(UFM1):c.-273_-271del) [8] in Pakistani (reported as NC_000013.10 (NM_016617.2):c.-155_-153del) [9] and Slovenian patient(s) with progressive neurodegenerative disease (reported as NM_016617.2(UFM1):c.-155delTCA) [10]. Here, UFM1 is linked to Global developmental delay.