Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002354.3:c.556-14A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613217.G.1 | Algeria | Intractable diarrhea; Abdominal distention; Abnormal urinary electrolyte concentration; Failure to thrive; Arthritis; Osteopenia | Yes | Yes | 2 males and 2 families from 2 unrelated families | |
| 613217.G.2 | Algeria | Intractable diarrhea | Yes | Group of three unrelated patients. 2 females and 1 male. |