| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 38.5% | 5/13 |
| Female | 61.5% | 8/13 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 0% | 0/1 |
| Birth Head circumference abnormalities | 0% | 0/0 |
| Current Height abnormalities | 0% | 0/0 |
| Current Weight abnormalities | 0% | 0/0 |
| Current Head circumference abnormalities | 0% | 0/0 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 13/13 |
| Global developmental delay | 30.8% | 4/13 |
| Hypsarrhythmia | 30.8% | 4/13 |
| Optic atrophy | 30.8% | 4/13 |
| Epileptic spasms | 23.1% | 3/13 |
| Generalized tonic-clonic seizures | 23.1% | 3/13 |
| Infantile axial hypotonia | 23.1% | 3/13 |
| Atonic seizures | 15.4% | 2/13 |
| Cerebral atrophy | 15.4% | 2/13 |
| Focal seizures | 15.4% | 2/13 |
| Generalized hypotonia | 15.4% | 2/13 |
| Hypokinesia | 15.4% | 2/13 |
| Spastic tetraparesis | 15.4% | 2/13 |
| Abnormality of the corpus callosum | 7.7% | 1/13 |
| Brisk reflexes | 7.7% | 1/13 |
| Cryptorchidism | 7.7% | 1/13 |
| Focal tonic seizures | 7.7% | 1/13 |
| Generalized neonatal hypotonia | 7.7% | 1/13 |
| Generalized clonic seizures | 7.7% | 1/13 |
| Generalized tonic seizures | 7.7% | 1/13 |
| Hemihypsarrhythmia | 7.7% | 1/13 |
| Infantile spasms | 7.7% | 1/13 |
| Intellectual disability, severe | 7.7% | 1/13 |
| Language impairment | 7.7% | 1/13 |
| Limb hypertonia | 7.7% | 1/13 |
| Limb dystonia | 7.7% | 1/13 |
| Lower limb spasticity | 7.7% | 1/13 |
| Poor eye contact | 7.7% | 1/13 |
| Psychomotor deterioration | 7.7% | 1/13 |
| Upper limb spasticity | 7.7% | 1/13 |
| Behavioral problems | 50.0% | 1/2 |
| Delayed speech and language development | 50.0% | 1/2 |
| Hypoplasia of the corpus callosum | 50.0% | 1/2 |
| Poor eye contact | 50.0% | 1/2 |
| Brain abnormality | 88.9% | 8/9 |
| Hypoplasia of the corpus callosum | 33.3% | 3/9 |
| Abnormality of the corpus callosum | 22.2% | 2/9 |
| Global brain atrophy | 22.2% | 2/9 |
| Abnormality of brainstem morphology | 11.1% | 1/9 |
| Cerebellar vermis hypoplasia | 11.1% | 1/9 |
| Delayed myelination | 11.1% | 1/9 |
| Delayed CNS myelination | 11.1% | 1/9 |
| Dysplastic corpus callosum | 11.1% | 1/9 |
| Frontotemporal cerebral atrophy | 11.1% | 1/9 |
| Microcephaly | 11.1% | 1/9 |
| Optic atrophy | 11.1% | 1/9 |
| Polymicrogyria | 11.1% | 1/9 |
| Facial abnormalities | ||
| Abnormality of the eye | 80.0% | 4/5 |
| Poor eye contact | 80.0% | 4/5 |
| Visual and hearing impairments | ||
| Abnormal vision | 50.0% | 1/2 |
| Poor eye contact | 50.0% | 1/2 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 1/1 |
| Kyphoscoliosis | 100.0% | 1/1 |