FBXL4
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 1/2 |
| Female | 50.0% | 1/2 |
| Indifferent | 0% | 0/2 |
| Unknown | 0% | 0/2 |
| General | ||
| Birth Length abnormalities | 0% | 0/0 |
| Birth Weight abnormalities | 50.0% | 1/2 |
| < P3 : Small for gestational age | 50.0% | 1/2 |
| Birth Head circumference abnormalities | 0% | 0/0 |
| Current Height abnormalities | 100.0% | 1/1 |
| < P3 : Short stature | 100.0% | 1/1 |
| Current Weight abnormalities | 50.0% | 1/2 |
| < P3 : Decreased body weight | 50.0% | 1/2 |
| Current Head circumference abnormalities | 100.0% | 1/1 |
| < P3 : Microcephaly | 100.0% | 1/1 |
| Neurology | ||
| Neurological abnormalities | 50.0% | 1/2 |
| Ataxia | 50.0% | 1/2 |
| Dysphagia | 50.0% | 1/2 |
| Dystonia | 50.0% | 1/2 |
| Generalized hypotonia | 50.0% | 1/2 |
| Progressive choreoathetosis | 50.0% | 1/2 |
| Brain abnormality | 100.0% | 2/2 |
| Abnormality of the cerebral white matter | 100.0% | 2/2 |
| Cerebral atrophy | 100.0% | 2/2 |
| Corpus callosum atrophy | 100.0% | 2/2 |
| Enlarged cisterna magna | 100.0% | 2/2 |
| Arachnoid cyst | 50.0% | 1/2 |
| Elevated brain lactate level by MRS | 50.0% | 1/2 |
| Enlarged sylvian cistern | 50.0% | 1/2 |
| Hydrocephalus | 50.0% | 1/2 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 2/2 |
| Feeding difficulties | 100.0% | 2/2 |
| Decreased liver function | 50.0% | 1/2 |
| Inguinal hernia | 50.0% | 1/2 |
| Umbilical hernia | 50.0% | 1/2 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 100.0% | 1/1 |
| Hyperammonemia | 100.0% | 1/1 |
| Lactic acidosis | 100.0% | 1/1 |