METTL23
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 60.0% | 9/15 |
| Female | 40.0% | 6/15 |
| Indifferent | 0% | 0/15 |
| Unknown | 0% | 0/15 |
| General | ||
| Birth Length abnormalities | 0% | 0/15 |
| Birth Weight abnormalities | 6.7% | 1/15 |
| > P98 : Large for gestational age | 6.7% | 1/15 |
| Birth Head circumference abnormalities | 0% | 0/15 |
| Current Height abnormalities | 6.7% | 1/15 |
| < P3 : Short stature | 6.7% | 1/15 |
| Current Weight abnormalities | 6.7% | 1/15 |
| < P3 : Decreased body weight | 6.7% | 1/15 |
| Current Head circumference abnormalities | 6.7% | 1/15 |
| < P3 : Microcephaly | 6.7% | 1/15 |
| Neurology | ||
| Neurological abnormalities | 26.7% | 4/15 |
| Seizures | 20.0% | 3/15 |
| Muscular hypotonia | 6.7% | 1/15 |
| Behavioral problems | 46.7% | 7/15 |
| Attention deficit hyperactivity disorder | 33.3% | 5/15 |
| Aggressive behavior | 6.7% | 1/15 |
| Autism | 6.7% | 1/15 |
| Impulsivity | 6.7% | 1/15 |
| Brain abnormality | 21.4% | 3/14 |
| Limbic malformations | 14.3% | 2/14 |
| Ventriculomegaly | 7.1% | 1/14 |
| Facial abnormalities | ||
| Abnormality of the ear | 25.0% | 3/12 |
| Long ear | 25.0% | 3/12 |
| Abnormality of the eye | 66.7% | 8/12 |
| Large eyes | 58.3% | 7/12 |
| Deeply set eye | 16.7% | 2/12 |
| Upslanted palpebral fissure | 16.7% | 2/12 |
| Epicanthus | 8.3% | 1/12 |
| Abnormality of the nose | 66.7% | 8/12 |
| Depressed nasal bridge | 66.7% | 8/12 |
| Short nose | 25.0% | 3/12 |
| Prominent nose | 8.3% | 1/12 |
| Abnormality of the mouth | 84.6% | 11/13 |
| Thin upper lip vermilion | 38.5% | 5/13 |
| Abnormality of the maxilla | 23.1% | 3/13 |
| Long philtrum | 23.1% | 3/13 |
| Thin vermilion border | 15.4% | 2/13 |
| Abnormality of the uvula | 7.7% | 1/13 |
| Submucous cleft hard palate | 7.7% | 1/13 |
| Wide mouth | 7.7% | 1/13 |
| Heart | ||
| Abnormality of the heart | 15.4% | 2/13 |
| Mitral valve prolapse | 7.7% | 1/13 |
| Palpitations | 7.7% | 1/13 |
| Ventricular septal defect | 7.7% | 1/13 |
| Pulmonary | ||
| Abnormality of the lungs | 7.7% | 1/13 |
| Asthma | 7.7% | 1/13 |
| Obstructive sleep apnea | 7.7% | 1/13 |
| Urogenital | ||
| Abnormality of the urogenital system | 15.4% | 2/13 |
| Cryptorchidism | 7.7% | 1/13 |
| Shawl scrotum | 7.7% | 1/13 |
| Skeleton | ||
| Skeletal abnormalities | 53.8% | 7/13 |
| Pes planus | 30.8% | 4/13 |
| Syndactyly | 23.1% | 3/13 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 23.1% | 3/13 |
| High anterior hairline | 15.4% | 2/13 |
| Low anterior hairline | 7.7% | 1/13 |