| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 4/8 |
| Female | 50.0% | 4/8 |
| Indifferent | 0% | 0/8 |
| Unknown | 0% | 0/8 |
| General | ||
| Birth Length abnormalities | 0% | 0/3 |
| Birth Weight abnormalities | 0% | 0/3 |
| Birth Head circumference abnormalities | 33.3% | 1/3 |
| > P98 : Macrocephaly at birth | 33.3% | 1/3 |
| Current Height abnormalities | 50.0% | 1/2 |
| > P98 : Tall stature | 50.0% | 1/2 |
| Current Weight abnormalities | 100.0% | 2/2 |
| < P3 : Decreased body weight | 50.0% | 1/2 |
| > P98 : Increased body weight | 50.0% | 1/2 |
| Current Head circumference abnormalities | 100.0% | 4/4 |
| < P3 : Microcephaly | 25.0% | 1/4 |
| > P98 : Macrocephaly | 75.0% | 3/4 |
| Neurology | ||
| Neurological abnormalities | 66.7% | 4/6 |
| Generalized hypotonia | 33.3% | 2/6 |
| Seizures | 33.3% | 2/6 |
| Hyporeflexia | 16.7% | 1/6 |
| Sensorineural hearing impairment | 16.7% | 1/6 |
| Brain abnormality | 87.5% | 7/8 |
| Dilation of lateral ventricles | 62.5% | 5/8 |
| Hydrocephalus | 62.5% | 5/8 |
| Agenesis of corpus callosum | 25.0% | 2/8 |
| Cerebral cortical atrophy | 25.0% | 2/8 |
| Dilated third ventricle | 25.0% | 2/8 |
| Focal lissencephaly | 25.0% | 2/8 |
| Heterotopia | 25.0% | 2/8 |
| Abnormal cortical gyration | 12.5% | 1/8 |
| Aplasia/Hypoplasia of the corpus callosum | 12.5% | 1/8 |
| Aqueductal stenosis | 12.5% | 1/8 |
| Cerebellar atrophy | 12.5% | 1/8 |
| CNS hypomyelination | 12.5% | 1/8 |
| Dysplastic corpus callosum | 12.5% | 1/8 |
| Extra-axial cerebrospinal fluid accumulation | 12.5% | 1/8 |
| Gliosis | 12.5% | 1/8 |
| Hypoplasia of olfactory tract | 12.5% | 1/8 |
| Lissencephaly | 12.5% | 1/8 |
| Facial abnormalities | ||
| Abnormality of the ear | 12.5% | 1/8 |
| Posteriorly rotated ears | 12.5% | 1/8 |
| Abnormality of the eye | 12.5% | 1/8 |
| Downslanted palpebral fissures | 12.5% | 1/8 |
| Abnormality of the nose | 14.3% | 1/7 |
| Bulbous nose | 14.3% | 1/7 |
| Abnormality of the mouth | 12.5% | 1/8 |
| Hypoplasia of teeth | 12.5% | 1/8 |
| Visual and hearing impairments | ||
| Abnormal hearing | 50.0% | 1/2 |
| Sensorineural hearing impairment | 50.0% | 1/2 |
| Abnormal vision | 85.7% | 6/7 |
| Abnormality of the fovea | 14.3% | 1/7 |
| Alternating esotropia | 14.3% | 1/7 |
| Chorioretinal coloboma | 14.3% | 1/7 |
| Iris coloboma | 14.3% | 1/7 |
| Lacrimal duct stenosis | 14.3% | 1/7 |
| Macular hypoplasia | 14.3% | 1/7 |
| Retinal atrophy | 14.3% | 1/7 |
| Rotary nystagmus | 14.3% | 1/7 |
| Visual impairment | 14.3% | 1/7 |
| Heart | ||
| Abnormality of the heart | 40.0% | 2/5 |
| Atria septal defect | 40.0% | 2/5 |
| Left-to-right shunt | 20.0% | 1/5 |
| Right atrial enlargement | 20.0% | 1/5 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 20.0% | 1/5 |
| Intestinal malrotation | 20.0% | 1/5 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 1/2 |
| Multicystic kidney dysplasia | 50.0% | 1/2 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 1/2 |
| Joint hypermobility | 50.0% | 1/2 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 1/2 |
| Prominent fingertip pads | 50.0% | 1/2 |