ALKBH8
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 77.8% | 7/9 |
| Female | 22.2% | 2/9 |
| Indifferent | 0% | 0/9 |
| Unknown | 0% | 0/9 |
| General | ||
| Birth Length abnormalities | 0% | 0/3 |
| Birth Weight abnormalities | 0% | 0/3 |
| Birth Head circumference abnormalities | 0% | 0/3 |
| Current Height abnormalities | 22.2% | 2/9 |
| < P3 : Short stature | 22.2% | 2/9 |
| Current Weight abnormalities | 11.1% | 1/9 |
| < P3 : Decreased body weight | 11.1% | 1/9 |
| Current Head circumference abnormalities | 22.2% | 2/9 |
| > P98 : Macrocephaly | 11.1% | 1/9 |
| < P3 : Microcephaly | 11.1% | 1/9 |
| Neurology | ||
| Neurological abnormalities | 88.9% | 8/9 |
| Seizures | 66.7% | 6/9 |
| Hyporeflexia | 22.2% | 2/9 |
| Muscular hypotonia | 22.2% | 2/9 |
| Severe expressive language delay | 22.2% | 2/9 |
| EEG with generalized slow activity | 11.1% | 1/9 |
| Behavioral problems | 66.7% | 4/6 |
| Hyperactivity | 33.3% | 2/6 |
| Short attention span | 33.3% | 2/6 |
| Attention deficit hyperactivity disorder | 16.7% | 1/6 |
| Autistic behavior | 16.7% | 1/6 |
| Brain abnormality | 40.0% | 2/5 |
| Abnormality of the corpus callosum | 40.0% | 2/5 |
| Abnormality of the internal capsule | 40.0% | 2/5 |
| Cerebellar vermis atrophy | 40.0% | 2/5 |
| Cerebellar atrophy | 40.0% | 2/5 |
| Delayed CNS myelination | 40.0% | 2/5 |
| Enlarged sylvian cistern | 40.0% | 2/5 |
| Abnormal myelination | 20.0% | 1/5 |
| Cerebral atrophy | 20.0% | 1/5 |
| Dilated fourth ventricle | 20.0% | 1/5 |
| Leukodystrophy | 20.0% | 1/5 |
| Perivascular spaces | 20.0% | 1/5 |
| Small cerebral cortex | 20.0% | 1/5 |
| Facial abnormalities | ||
| Abnormality of the ear | 44.4% | 4/9 |
| Large earlobe | 22.2% | 2/9 |
| Low-set ears | 22.2% | 2/9 |
| Prominent antihelix | 22.2% | 2/9 |
| Abnormality of the eye | 33.3% | 3/9 |
| Almond-shaped palpebral fissure | 22.2% | 2/9 |
| Curly hair | 11.1% | 1/9 |
| Deeply set eye | 11.1% | 1/9 |
| Ptosis | 11.1% | 1/9 |
| Abnormality of the nose | 22.2% | 2/9 |
| Low hanging columella | 22.2% | 2/9 |
| Prominent nose | 22.2% | 2/9 |
| Wide nasal bridge | 22.2% | 2/9 |
| Abnormality of the mouth | 33.3% | 3/9 |
| Tented upper lip vermilion | 22.2% | 2/9 |
| Thick lower lip vermilion | 22.2% | 2/9 |
| Wide mouth | 22.2% | 2/9 |
| Overbite | 11.1% | 1/9 |
| Heart | ||
| Abnormality of the heart | 50.0% | 1/2 |
| Aortic regurgitation | 50.0% | 1/2 |
| Ventricular septal defect | 50.0% | 1/2 |
| Urogenital | ||
| Abnormality of the urogenital system | 100.0% | 3/3 |
| Bilateral cryptorchidism | 33.3% | 1/3 |
| Cryptorchidism | 33.3% | 1/3 |
| Micropenis | 33.3% | 1/3 |
| Unilateral renal agenesis | 33.3% | 1/3 |
| Skeleton | ||
| Skeletal abnormalities | 66.7% | 2/3 |
| Joint hypermobility | 66.7% | 2/3 |