| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 58.3% | 7/12 |
| Female | 41.7% | 5/12 |
| General | ||
| Birth Length abnormalities | 0% | 0/12 |
| Birth Weight abnormalities | 0% | 0/12 |
| Birth Head circumference abnormalities | 41.7% | 5/12 |
| < P3 : Congenital microcephaly | 41.7% | 5/12 |
| Current Height abnormalities | 0% | 0/12 |
| Current Weight abnormalities | 0% | 0/12 |
| Current Head circumference abnormalities | 50.0% | 6/12 |
| < P3 : Microcephaly | 50.0% | 6/12 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 10/10 |
| Seizures | 100.0% | 10/10 |
| Infantile spasms | 40.0% | 4/10 |
| Generalized hypotonia | 30.0% | 3/10 |
| Generalized tonic-clonic seizures | 20.0% | 2/10 |
| Generalized tonic seizures | 20.0% | 2/10 |
| Febrile seizures | 10.0% | 1/10 |
| Focal seizures with impairment of consciousness or awareness | 10.0% | 1/10 |
| Generalized myoclonic seizures | 10.0% | 1/10 |
| Generalized seizures | 10.0% | 1/10 |
| Infantile axial hypotonia | 10.0% | 1/10 |
| Lower limb hypertonia | 10.0% | 1/10 |
| Myoclonic spasms | 10.0% | 1/10 |
| Behavioral problems | 75.0% | 6/8 |
| Short attention span | 37.5% | 3/8 |
| Autistic behavior | 25.0% | 2/8 |
| Autism | 25.0% | 2/8 |
| Anxiety | 12.5% | 1/8 |
| Exaggerated startle response | 12.5% | 1/8 |
| Hyperactivity | 12.5% | 1/8 |
| Impulsivity | 12.5% | 1/8 |
| Brain abnormality | 91.7% | 11/12 |
| Ventriculomegaly | 66.7% | 8/12 |
| Lissencephaly | 58.3% | 7/12 |
| Abnormality of the corpus callosum | 25.0% | 3/12 |
| Abnormality of the basal ganglia | 25.0% | 3/12 |
| Cerebellar vermis hypoplasia | 25.0% | 3/12 |
| Hypoplasia of the corpus callosum | 25.0% | 3/12 |
| Partial agenesis of the corpus callosum | 16.7% | 2/12 |
| Abnormality of the cerebellar vermis | 8.3% | 1/12 |
| Gray matter heterotopias | 8.3% | 1/12 |
| Intraventricular arachnoid cyst | 8.3% | 1/12 |
| Facial abnormalities | ||
| Abnormality of the eye | 37.5% | 3/8 |
| Epicanthus | 12.5% | 1/8 |
| Prominent epicanthal folds | 12.5% | 1/8 |
| Abnormality of the nose | 25.0% | 2/8 |
| Wide nasal bridge | 12.5% | 1/8 |
| Visual and hearing impairments | ||
| Abnormal vision | 45.5% | 5/11 |
| Strabismus | 18.2% | 2/11 |
| Poor eye contact | 9.1% | 1/11 |
| Visual impairment | 9.1% | 1/11 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 18.2% | 2/11 |
| Feeding difficulties in infancy | 9.1% | 1/11 |
| Gastrostomy tube feeding in infancy | 9.1% | 1/11 |
| Gastroesophageal reflux | 9.1% | 1/11 |
| Urogenital | ||
| Abnormality of the urogenital system | 25.0% | 3/12 |
| Cryptorchidism | 16.7% | 2/12 |
| Glandular hypospadias | 8.3% | 1/12 |
| Uric acid urolithiasis independent of gout | 8.3% | 1/12 |
| Skeleton | ||
| Skeletal abnormalities | 8.3% | 1/12 |
| Clinodactyly of the 5th toe | 8.3% | 1/12 |