Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000213.4:c.3941_3943del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 226730.2.1 | Kuwait | Congenital pyloric atresia; Protein-losing enteropathy; Diarrhea; Hypoalbuminemia | Female | Yes | Yes | The proband had a similarly affected sister, who died in infancy due to intractable diarrhoea and hypoalbuminaemia without skin lesions |