Figure 4. Pedigrees and haplotypes from four Spanish families with CLRN1 mutations. A: Patient homozygote for c.189C>A (p.Y63X). B: Patient compound heterozygote for c.189C>A (p.Y63X) and c.619C>T (p.R207X). C: Patients compound heterozygotes for c.619C>T (p.Y63X) and c.503T>A (p.I168N). D: Patients homozygotes for c.169C>A (p.Y63X) initially described in [9].