ELOVL4
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 2/2 |
| Female | 0% | 0/2 |
| Indifferent | 0% | 0/2 |
| Unknown | 0% | 0/2 |
| General | ||
| Birth Length abnormalities | 0% | 0/0 |
| Birth Weight abnormalities | 0% | 0/0 |
| Birth Head circumference abnormalities | 0% | 0/0 |
| Current Height abnormalities | 100.0% | 2/2 |
| < P3 : Short stature | 100.0% | 2/2 |
| Current Weight abnormalities | 50.0% | 1/2 |
| < P3 : Decreased body weight | 50.0% | 1/2 |
| Current Head circumference abnormalities | 50.0% | 1/2 |
| < P3 : Microcephaly | 50.0% | 1/2 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 2/2 |
| Limb hypertonia | 100.0% | 2/2 |
| Seizures | 100.0% | 2/2 |
| Spastic tetraplegia | 50.0% | 1/2 |
| Brain abnormality | 100.0% | 1/1 |
| Brain atrophy | 100.0% | 1/1 |
| Delayed myelination | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the eye | 50.0% | 1/2 |
| Pallor | 50.0% | 1/2 |
| Photophobia | 50.0% | 1/2 |
| Abnormality of the mouth | 100.0% | 2/2 |
| Delayed eruption of primary teeth | 50.0% | 1/2 |
| Gingivitis | 50.0% | 1/2 |
| Premature loss of teeth | 50.0% | 1/2 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 2/2 |
| Abnormal visual electrophysiology | 50.0% | 1/2 |
| Amblyopia | 50.0% | 1/2 |
| Myopia | 50.0% | 1/2 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 1/2 |
| Decreased testicular size | 50.0% | 1/2 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 2/2 |
| Generalized ichthyosis | 100.0% | 2/2 |