Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_138425.4:c.53-2A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 218340.20.1 | Saudi Arabia | Intellectual disability; Global developmental delay; Hydronephrosis; Vesicoureteral reflux; Unilateral renal atrophy | Male | Yes | Proband from 'family 024' in the publication | |
| 218340.20.3 | Saudi Arabia | Female | Mother of 218340.20.1 |