Table 2.
Frequency of clinical features all patients (n=30)
| Clinical features | No. of positive patients (%) |
|---|---|
| Diarrhea | 30/30 (100) |
| FTT on first presentation | 30/30 (100) |
| Hair abnormality | 28/29 (96) |
| Low birth weight/small for gestational age | 20/30 (66.7) |
| Skin pigmentations | 26/30 (86.7) |
| Dysmorphic features | 22/30 (73) |
| Peg Teeth | 5/28 (18) |
| Term Baby | 28/30 (93) |
| Psycho motor retardation | 16/28 (57) |
| Chronic liver disease | 9/30 (30) |
| Immunodeficiency/low IgG | 5/24 (21) |
| Congenital heart disease | 1/30 (3.3) |
| Hypothyroidism | 2 (6.7) |