| 264090.1.1 | Palestine | Progeroid facial appearance; Lack of facial subcutaneous fat; Natal tooth; Psychomotor retardation; Chronic lung disease; Macrocephaly | Male | Yes | Yes | |
| 264090.1.2 | Palestine | Progeroid facial appearance; Lack of facial subcutaneous fat; Natal tooth; Psychomotor retardation; Macrocephaly | Female | Yes | Yes | Sister of 264090.1.1 |
| 264090.1.3 | Palestine | Progeroid facial appearance; Lack of facial subcutaneous fat; Natal tooth; Psychomotor retardation; Macrocephaly; Recurrent respiratory infections | Male | Yes | Yes | Brother of 264090.1.1 |
| 264090.1.4 | Palestine | | Male | | | Father of 264090.1.1. The authors noted that he "was found homozygous for the mutant allele carrying the c.3337–11T>C and c.1909+22G>A variants, indicating that this mutant allele does not cause the phenotype when present in homozygous state and that a specific mutation signature indicated by the combination of compound heterozygous mutations in POLR3A is necessary to cause WRS." |
