Table 1. Clinical and molecular features of the CSBS patients included in this study.
| P1 | P2 | P3 | |
|---|---|---|---|
| Gender | Female | Female | Female |
| Age of diagnostic | 3 months | 38 days | 1 week |
| Ethnicity | Iranian | Iranian | Caucasian |
| Consanguinity | + | + | No |
| Malrotation | + | + | + |
| Length of the small intestine (cm) | 76 | 26 | 50 |
| Additional features | Intestinal dysmotility UPJO | Intestinal dysmotility UPJO | Very mild mental retardation |
| CLMP variants | c.508C>T; p.(R170*) | c.508C>T; (p.R170*) | c.410G>A; p.(C137Y) c.29-2 A>G |
| Zygosity | Homozygous | Homozygous | Heterozygous (two unphased variants) |
Abbreviations: CSBS, congenital short bowel syndrome; UPJO, ureteropelvic junction obstruction.