| Turkish [1] | c.1202G>A | p. Trp401Ter | Birth (diarrhea) | FTT, vomiting, hypoalbuminemia, hypogammaglobulinemia, edema |
| Turkish [1] | c.573_574delAGinsCCCAT CCCACCCTGCCCATCT | - | 3 weeks (diarrhea) | Vomiting, hypoalbuminemia, edema, FTT, hypogammaglobulinemia, hypertriglyceridemia |
| Turkish [1] | c.937-1G>A | - | 2 months (diarrhea) | FTT, diarrhea, vomiting, hypoalbuminemia, hypogammaglobulinemia |
| Turkish [1] | c.953insC | p. Ile319Hisfs*31 | Before the age of 2.5 months (diarrhea) | FTT, vomiting, diarrhea, hypoalbuminemia, hypogammaglobulinemia |
| Caucasian [1] and NM [6] | c.629_631delCCT | p. Ser210del | Before the age of 2 weeks (diarrhea, vomiting) | Vomiting, diarrhea, FTT, malnutrition, hypoalbuminemia. |
| NM [5] |
|
| Before the age of 17 day (vomiting, diarrhea, weight loss) | FTT, vomiting, diarrhea, hypoalbuminemia |
| NM [5] |
c.428_429del c.629_631del (paternal) |
p. Phe143Cysfs*8 p. Ser210del | The early postnatal period (feed intolerance) | FTT, vomiting, diarrhea |
| Mexican [6] | c.676+1G>A | - | 11 days (vomiting) | Vomiting, Diarrhea, feeding difficulties, FTT, mild developmental delay |
| NM [6] |
|
| 1 week (vomiting, tired, and sleepy during a feed) | FTT, diarrhea, vomiting, nutritional microcephaly, anemia, arachnodactyly and mild dysmorphic facial features, hypogammaglobulinemia |
| NM [6] |
c.1310A>G (de novo) c.981+1G>T(maternal) |
| 3 weeks (poor feeding and vomiting) | FTT, poor feeding, vomiting, short stature, rickets, abnormal brain MRI, anemia, hypoglycemia. |
| Ashkenazi Jewish [3] and Hispanic [7] | c.751+2T>C | - | Before the age of 7 weeks (vomiting) | Diarrhea, vomiting, malnutrition, hypertriglyceridemia, or triglyceride levels were normal, and hypoalbuminemia |
| South Asian [8] | c.314T>C | p. Leu105Pro | Shortly after birth (diarrhea) | Diarrhea, FTT, hypertriglyceridemia, hypoalbuminemia |
| Chinese [11] |
c.895-1G>A (paternal) c.751+1G>C (maternal) |
| Soon after birth (vomiting) | Vomiting, diarrhea, hypoalbuminemia, hypertriglyceridemia |
| Chinese [12] | c.895-1G>A | - | Birth (diarrhea, vomiting) | Diarrhea, vomiting, Malnutrition, hypoalbuminemia, intestinal lymphangiectasia, |
| Chinese [12] | c.1249-6T>G | - | 30 months (edema) | Malnutrition, hypoalbuminemia, lymphopenia, edema |
| Arab-Muslim [4] | c.884T>C | p. Leu295Pro | 2 months (diarrhea) | Diarrhea, hypoalbuminemia, hypogammaglobulinemia, FTT, edema, anemia |
| Chinese [13] |
c.676+1G>T(maternal) c.367_368delCT(paternal) |
| Birth (diarrhea, vomiting) | FTT, diarrhea, vomiting, hypoalbuminemia, and triglyceride levels were normal |
| Latin America [14] |
|
| 2 months (diarrhea) | Diarrhea, growth retardation, anemia, hypoalbuminemia, thrombocytosis, hypogammaglobulinemia. |
| Caucasian [15] |
|
p. Phe338del p. Ser420Arg | 1 months (vomiting) | FTT, vomiting, diarrhea, malnutrition, hypoalbuminemia, rickets |
| Chinese [16] | c.133delG | p. Asp45Thrfs*22 | 20 days (vomiting) | FTT, feeding difficulties, vomiting, diarrhea, hypoalbuminemia, hypertriglyceridemia |
| Chinese (This study) |
|
p. Phe408fsTer74 p. Arg280* | Birth (diarrhea) | FTT, feeding difficulties, vomiting, hypoalbuminemia, hypertriglyceridemia |
