Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_007055.4:c.1800C>T | 1 | |||
| NM_007055.4:c.[1909+22G>A;3337-11T>C] | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 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 |
| 264090.1.4 | 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." | |||
| 264090.1.5 | Palestine | Female | Mother of 264090.1.1. |