Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001013663.2:c.365G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613610.1.1 | Saudi Arabia | Strabismus; Renal insufficiency; Hepatic fibrosis; Global developmental delay; Depressed nasal bridge; Cerebellar atrophy | Female | Yes | Yes | |
| 613610.1.2 | Saudi Arabia | Strabismus; Renal insufficiency; Hepatic fibrosis; Global developmental delay | Female | Yes | Yes | Sister of 613610.1.1 |
| 613610.1.3 | Saudi Arabia | Male | Father of 613610.1.1 |