Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002354.3:c.499dup | 1 | |||
| NM_002354.3:c.492-2A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613217.2 | Kuwait | Intractable diarrhea; Failure to thrive; Metabolic acidosis; Abnormal blood ion concentration; Medulloblastoma; Death in infancy | Male | No | Yes | |
| 613217.3 | Kuwait | Intractable diarrhea; Failure to thrive | Female | |||
| 613217.4 | Kuwait | Intractable diarrhea; Failure to thrive | Male | |||
| 613217.5 | Kuwait | Intractable diarrhea; Villous atrophy | Male | No | Yes | |
| 613217.6 | Kuwait | Intractable diarrhea; Villous atrophy | Female | Yes | Yes | |
| 613217.7 | Kuwait | Intractable diarrhea; Villous atrophy | Male | No | Yes | |
| 613217.8 | Kuwait | Intractable diarrhea; Villous atrophy | Male | Yes | ||
| 613217.10 | Kuwait | Intractable diarrhea | Male | No | ||
| 613217.11 | Kuwait | Intractable diarrhea | Female | No | Second mutation in the gene in this patient is unknown | |
| 613217.12 | Kuwait | Intractable diarrhea | Female | No | ||
| 613217.13 | Kuwait | Intractable diarrhea | Male | No | ||
| 613217.19 | Kuwait | Intractable diarrhea; Arthritis | Female | Yes | ||
| 613217.20 | Kuwait | Intractable diarrhea | Male | Yes | ||
| 613217.21 | Kuwait | Intractable diarrhea; Arthritis; Esophageal atresia | Male | Yes | ||
| 613217.22 | Kuwait | Intractable diarrhea | Female | Yes |