Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002354.3:c.394G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613217.2 | Egypt | Intractable diarrhea; Failure to thrive; Metabolic acidosis; Abnormal blood ion concentration; Medulloblastoma; Death in infancy | Male | No | Yes | |
| 613217.3 | Egypt | Intractable diarrhea; Failure to thrive | Female | |||
| 613217.4 | Egypt | Intractable diarrhea; Failure to thrive | Male | |||
| 613217.5 | Egypt | Intractable diarrhea; Villous atrophy | Male | No | Yes | |
| 613217.6 | Egypt | Intractable diarrhea; Villous atrophy | Female | Yes | Yes | |
| 613217.7 | Egypt | Intractable diarrhea; Villous atrophy | Male | No | Yes | |
| 613217.8 | Egypt | Intractable diarrhea; Villous atrophy | Male | Yes | ||
| 613217.10 | Egypt | Intractable diarrhea | Male | No | ||
| 613217.11 | Egypt | Intractable diarrhea | Female | No | Second mutation in the gene in this patient is unknown | |
| 613217.13 | Egypt | Intractable diarrhea | Male | No | ||
| 613217.14 | Egypt | Intractable diarrhea | Female | Yes | ||
| 613217.19 | Egypt | Intractable diarrhea; Arthritis | Female | Yes | ||
| 613217.20 | Egypt | Intractable diarrhea | Male | Yes | ||
| 613217.21 | Egypt | Intractable diarrhea; Arthritis; Esophageal atresia | Male | Yes | ||
| 613217.22 | Egypt | Intractable diarrhea | Female | Yes |