3364C>T (p.P1122S), previously shown to be causal for Joubert syndrome, and a heterozygous NINL frameshift mutation leading to a stop codon after 43 amino acids (c.3020delC, p.P1007Lfs*43) (Fig 4i) (and no other rare deleterious variant in any of the known JS genes). The gene discussed is NINL; the disease is Joubert syndrome.