Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_153704.5:c.383_384delAC | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 607361.6.1 | Oman | Occipital encephalocele; Dandy-walker malformation; Renal cyst; polydactyly; Hepatic fibrosis | Unknown | Yes | ||
| 607361.6.2 | Oman | Male | Father of patient 607361.6.1 |