| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 2/2 |
| Female | 0% | 0/2 |
| General | ||
| Birth Length abnormalities | 0% | 0/2 |
| Birth Weight abnormalities | 0% | 0/2 |
| Birth Head circumference abnormalities | 0% | 0/2 |
| Current Height abnormalities | 50.0% | 1/2 |
| < P3 : Short stature | 50.0% | 1/2 |
| Current Weight abnormalities | 100.0% | 2/2 |
| < P3 : Decreased body weight | 100.0% | 2/2 |
| Current Head circumference abnormalities | 50.0% | 1/2 |
| < P3 : Microcephaly | 50.0% | 1/2 |
| Neurology | ||
| Neurological abnormalities | 50.0% | 1/2 |
| Central hypotonia | 50.0% | 1/2 |
| Congenital peripheral neuropathy | 50.0% | 1/2 |
| Global developmental delay | 50.0% | 1/2 |
| Intellectual disability | 50.0% | 1/2 |
| Brain abnormality | 50.0% | 1/2 |
| Aplasia/Hypoplasia of the corpus callosum | 50.0% | 1/2 |
| Hydrocephalus | 50.0% | 1/2 |
| Visual and hearing impairments | ||
| Abnormal hearing | 50.0% | 1/2 |
| Conductive hearing impairment | 50.0% | 1/2 |
| Abnormal vision | 100.0% | 2/2 |
| Aplasia/Hypoplasia of the optic nerve | 50.0% | 1/2 |
| Congenital exotropia | 50.0% | 1/2 |
| Myopia | 50.0% | 1/2 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 2/2 |
| Chronic diarrhea | 100.0% | 2/2 |
| Intestinal lymphangiectasia | 100.0% | 2/2 |
| Malabsorption | 100.0% | 2/2 |
| Protein-losing enteropathy | 100.0% | 2/2 |
| Ascites | 50.0% | 1/2 |
| Intussusception | 50.0% | 1/2 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 1/2 |
| Cryptorchidism | 50.0% | 1/2 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 2/2 |
| Ichthyosis | 50.0% | 1/2 |
| Skin rash | 50.0% | 1/2 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 100.0% | 2/2 |
| Abnormality of complement system | 100.0% | 2/2 |
| Gastrointestinal inflammation | 100.0% | 2/2 |
| Panhypogammaglobulinemia | 100.0% | 2/2 |