Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_148960.3:c.241C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 248190.1.1 | United Arab Emirates | Polyuria; Polydipsia; Myopia; Exodeviation; Retinal dystrophy; Exotropia; Medullary nephrocalcinosis | Female | Yes | Yes | |
| 248190.1.2 | United Arab Emirates | Renal insufficiency; Nephrocalcinosis; Cataract; Horizontal nystagmus; Chorioretinal degeneration | Female | Yes | Yes | Sister of 248190.1.1 |
| 248190.1.4 | United Arab Emirates | Male | Father of 248190.1.1 | |||
| 248190.1.5 | United Arab Emirates | Female | Mother of 248190.1.1 |