| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 8/16 |
| Female | 50.0% | 8/16 |
| Indifferent | 0% | 0/16 |
| Unknown | 0% | 0/16 |
| General | ||
| Birth Length abnormalities | 6.3% | 1/16 |
| > P98 : Birth length greater than 97th percentile | 6.3% | 1/16 |
| Birth Weight abnormalities | 0% | 0/16 |
| Birth Head circumference abnormalities | 6.3% | 1/16 |
| > P98 : Macrocephaly at birth | 6.3% | 1/16 |
| Current Height abnormalities | 6.3% | 1/16 |
| > P98 : Tall stature | 6.3% | 1/16 |
| Current Weight abnormalities | 0% | 0/16 |
| Current Head circumference abnormalities | 6.3% | 1/16 |
| > P98 : Macrocephaly | 6.3% | 1/16 |
| Neurology | ||
| Neurological abnormalities | 86.7% | 13/15 |
| Tremor | 53.3% | 8/15 |
| Muscular hypotonia | 46.7% | 7/15 |
| Ataxia | 26.7% | 4/15 |
| Seizures | 26.7% | 4/15 |
| Absence seizures | 20.0% | 3/15 |
| Poor coordination | 13.3% | 2/15 |
| Developmental regression | 6.7% | 1/15 |
| Febrile seizures | 6.7% | 1/15 |
| Focal seizures | 6.7% | 1/15 |
| Generalized tonic-clonic seizures | 6.7% | 1/15 |
| Generalized myoclonic seizures | 6.7% | 1/15 |
| Myoclonus | 6.7% | 1/15 |
| Nystagmus | 6.7% | 1/15 |
| Oculomotor apraxia | 6.7% | 1/15 |
| Spina bifida occulta | 6.7% | 1/15 |
| Toe walking | 6.7% | 1/15 |
| Upper motor neuron dysfunction | 6.7% | 1/15 |
| Behavioral problems | 50.0% | 8/16 |
| Autism | 31.3% | 5/16 |
| Behavioral abnormality | 6.3% | 1/16 |
| Borderline personality disorder | 6.3% | 1/16 |
| Hyperactivity | 6.3% | 1/16 |
| Brain abnormality | 55.6% | 5/9 |
| Cerebellar hypoplasia | 22.2% | 2/9 |
| Abnormality of the cerebral ventricles | 11.1% | 1/9 |
| Cerebellar vermis hypoplasia | 11.1% | 1/9 |
| Cerebellar vermis atrophy | 11.1% | 1/9 |
| Hypoplasia of the corpus callosum | 11.1% | 1/9 |
| Pontocerebellar atrophy | 11.1% | 1/9 |
| Facial abnormalities | ||
| Abnormality of the eye | 50.0% | 7/14 |
| Strabismus | 35.7% | 5/14 |
| Esotropia | 14.3% | 2/14 |
| Visual and hearing impairments | ||
| Abnormal hearing | 6.3% | 1/16 |
| Visual impairment | 6.3% | 1/16 |
| Abnormal vision | 21.4% | 3/14 |
| Hypermetropia | 14.3% | 2/14 |
| Amblyopia | 7.1% | 1/14 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 6.3% | 1/16 |
| Constipation | 6.3% | 1/16 |
| Episodic vomiting | 6.3% | 1/16 |
| Urogenital | ||
| Abnormality of the urogenital system | 12.5% | 2/16 |
| Cryptorchidism | 6.3% | 1/16 |
| Hydronephrosis | 6.3% | 1/16 |
| Renal cyst | 6.3% | 1/16 |
| Skeleton | ||
| Skeletal abnormalities | 6.3% | 1/16 |
| Knee flexion contracture | 6.3% | 1/16 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 6.3% | 1/16 |
| Atopic dermatitis | 6.3% | 1/16 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 6.3% | 1/16 |
| Hypoglycemia | 6.3% | 1/16 |
| Abnormality of the metabolic system | 6.3% | 1/16 |
| Hypercholesterolemia | 6.3% | 1/16 |