ADAMTS9 and Joubert syndrome and related disorders: Homozygous frameshift variants (p.Gln1525Hisfs*60) of ADAMTS9 have been associated with severe brain anomalies and renal dysfunction (8), whereas compound heterozygous mutations (p.Arg647Gln and p.Arg1203Trp) have been observed in Joubert syndrome-related disorders without any renal dysfunction (9).