Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006580.3:c.704C>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 248250.1.1 | Lebanon | Short stature ; Hypercalciuria ; Nephrocalcinosis ; Nephrolithiasis ; Hyperchloremic metabolic acidosis ; Secondary hyperparathyroidism ; Chronic kidney disease ; Recurrent urinary tract infections ; Polydipsia ; Polyuria ; Dysuria ; Rickets | Male | Yes | Yes | Proband |
| 248250.1.2 | Lebanon | Short stature ; Hypomagnesemia ; Hypercalciuria ; Nephrocalcinosis ; Nephrolithiasis ; Chronic kidney disease | Female | Yes | Yes | Sister of 248250.1.1 |
| 248250.1.3 | Lebanon | Short stature ; Hypomagnesemia ; Hypercalciuria ; Nephrocalcinosis ; Nephrolithiasis ; Chronic kidney disease | Male | Yes | Yes | Brother of 248250.1.1 |
| 248250.1.4 | Lebanon | Short stature ; Hypomagnesemia ; Hypercalciuria ; Nephrocalcinosis ; Nephrolithiasis ; Chronic kidney disease | Male | Yes | Yes | Nephew of 248250.1.1 |
| 248250.1.5 | Lebanon | Short stature | Male | Yes | Yes | Unaffected brother of 248250.1.1; Father of 248250.1.4 |
| 248250.1.7 | Lebanon | Male | Yes | Yes | Unaffected father of 248250.1.1 | |
| 248250.1.8 | Lebanon | Female | Yes | Yes | Unaffected mother of 248250.1.1 |