Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_153704.5:c.1413-2A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 607361.7.1 | Saudi Arabia | Stillbirth; Renal cyst; Aplasia/Hypoplasia of the cerebellar vermis; hydrocephalus; Abnormal heart morphology; | Unknown | Yes | Yes | |
| 607361.7.2 | Saudi Arabia | Unknown | Yes | Yes | Affected sibling of 607361.7.1; HPO terms not detailed. | |
| 607361.7.3 | Saudi Arabia | Unknown | Yes | Yes | Affected sibling of 607361.7.1; HPO terms not detailed. | |
| 607361.7.5 | Saudi Arabia | Female | Healthy Mother of the proband 607361.7.1 |