Participant 178 is a 14-month-old male with macrocephaly and two ROHs on chromosomes 2 and 11 involving the HSPD1, PACS1, NDUFV1, and NDUFS8 genes that may play a role in psychomotor delay, hypotonia, and atypical development [37–40]. Here, NDUFV1 is linked to Macrocephaly.