Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_153704.6:c.2306del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 607361.10.1 | Saudi Arabia | Renal cyst; Occipital encephalocele; Pulmonary hypoplasia; Oligohydramnios; Microcephaly | No | Yes | ||
| 607361.10.2 | Saudi Arabia | Male | No | Father of patient 607361.10.1 |