SOX4
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 2/4 |
| Female | 50.0% | 2/4 |
| Indifferent | 0% | 0/4 |
| Unknown | 0% | 0/4 |
| General | ||
| Birth Length abnormalities | 25.0% | 1/4 |
| < P3 : Birth length less than 3rd percentile | 25.0% | 1/4 |
| Birth Weight abnormalities | 25.0% | 1/4 |
| < P3 : Small for gestational age | 25.0% | 1/4 |
| Birth Head circumference abnormalities | 0% | 0/4 |
| Current Height abnormalities | 25.0% | 1/4 |
| < P3 : Short stature | 25.0% | 1/4 |
| Current Weight abnormalities | 25.0% | 1/4 |
| < P3 : Decreased body weight | 25.0% | 1/4 |
| Current Head circumference abnormalities | 75.0% | 3/4 |
| < P3 : Microcephaly | 75.0% | 3/4 |
| Neurology | ||
| Neurological abnormalities | 50.0% | 2/4 |
| Dysphagia | 25.0% | 1/4 |
| Muscular hypotonia | 25.0% | 1/4 |
| Seizures | 25.0% | 1/4 |
| Spastic tetraparesis | 25.0% | 1/4 |
| Behavioral problems | 25.0% | 1/4 |
| Bruxism | 25.0% | 1/4 |
| Drooling | 25.0% | 1/4 |
| Brain abnormality | 100.0% | 2/2 |
| Abnormality of the cerebral white matter | 50.0% | 1/2 |
| Cerebellar atrophy | 50.0% | 1/2 |
| Delayed myelination | 50.0% | 1/2 |
| Facial abnormalities | ||
| Abnormality of the ear | 50.0% | 2/4 |
| Low-set, posteriorly rotated ears | 25.0% | 1/4 |
| Posteriorly rotated ears | 25.0% | 1/4 |
| Abnormality of the eye | 100.0% | 4/4 |
| Deeply set eye | 50.0% | 2/4 |
| Epicanthus | 50.0% | 2/4 |
| Infra-orbital crease | 50.0% | 2/4 |
| Infra-orbital fold | 25.0% | 1/4 |
| Keratoconus | 25.0% | 1/4 |
| Stellate iris | 25.0% | 1/4 |
| Abnormality of the nose | 75.0% | 3/4 |
| Anteverted nares | 75.0% | 3/4 |
| Depressed nasal bridge | 25.0% | 1/4 |
| Short nose | 25.0% | 1/4 |
| Abnormality of the mouth | 100.0% | 4/4 |
| Exaggerated cupid's bow | 100.0% | 4/4 |
| Wide mouth | 100.0% | 4/4 |
| Thick vermilion border | 50.0% | 2/4 |
| Delayed eruption of permanent teeth | 25.0% | 1/4 |
| Visual and hearing impairments | ||
| Abnormal vision | 25.0% | 1/4 |
| Strabismus | 25.0% | 1/4 |
| Heart | ||
| Abnormality of the heart | 25.0% | 1/4 |
| Perimembranous ventricular septal defect | 25.0% | 1/4 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 2/4 |
| Feeding difficulties | 50.0% | 2/4 |
| Constipation | 25.0% | 1/4 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 25.0% | 1/4 |
| Toenail dysplasia | 25.0% | 1/4 |