Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NC_000002.12:g.47584496_47665383del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613217.3 | United Arab Emirates | Intractable diarrhea; Failure to thrive | Female | |||
| 613217.4 | United Arab Emirates | Intractable diarrhea; Failure to thrive | Male | |||
| 613217.5 | United Arab Emirates | Intractable diarrhea; Villous atrophy | Male | No | Yes | |
| 613217.6 | United Arab Emirates | Intractable diarrhea; Villous atrophy | Female | Yes | Yes | |
| 613217.7 | United Arab Emirates | Intractable diarrhea; Villous atrophy | Male | No | Yes | |
| 613217.8 | United Arab Emirates | Intractable diarrhea; Villous atrophy | Male | Yes | ||
| 613217.10 | United Arab Emirates | Intractable diarrhea | Male | No | ||
| 613217.11 | United Arab Emirates | Intractable diarrhea | Female | No | Second mutation in the gene in this patient is unknown | |
| 613217.12 | United Arab Emirates | Intractable diarrhea | Female | No | ||
| 613217.13 | United Arab Emirates | Intractable diarrhea | Male | No | ||
| 613217.14 | United Arab Emirates | Intractable diarrhea | Female | Yes | ||
| 613217.19 | United Arab Emirates | Intractable diarrhea; Arthritis | Female | Yes | ||
| 613217.20 | United Arab Emirates | Intractable diarrhea | Male | Yes | ||
| 613217.21 | United Arab Emirates | Intractable diarrhea; Arthritis; Esophageal atresia | Male | Yes | ||
| 613217.22 | United Arab Emirates | Intractable diarrhea | Female | Yes |