MEF2C
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 14.3% | 1/7 |
| Female | 85.7% | 6/7 |
| Indifferent | 0% | 0/7 |
| Unknown | 0% | 0/7 |
| General | ||
| Birth Length abnormalities | 0% | 0/7 |
| Birth Weight abnormalities | 0% | 0/7 |
| Birth Head circumference abnormalities | 0% | 0/7 |
| Current Height abnormalities | 0% | 0/7 |
| Current Weight abnormalities | 14.3% | 1/7 |
| < P3 : Decreased body weight | 14.3% | 1/7 |
| Current Head circumference abnormalities | 0% | 0/7 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 7/7 |
| Febrile seizures | 57.1% | 4/7 |
| Central hypotonia | 42.9% | 3/7 |
| Generalized seizures | 28.6% | 2/7 |
| Absence seizures | 14.3% | 1/7 |
| Gait disturbance | 14.3% | 1/7 |
| Generalized tonic-clonic seizures | 14.3% | 1/7 |
| Generalized myoclonic seizures | 14.3% | 1/7 |
| Seizures | 14.3% | 1/7 |
| Severe global developmental delay | 14.3% | 1/7 |
| Spasticity | 14.3% | 1/7 |
| Behavioral problems | 100.0% | 7/7 |
| Stereotypic behavior | 85.7% | 6/7 |
| Autistic behavior | 42.9% | 3/7 |
| Bruxism | 28.6% | 2/7 |
| Recurrent hand flapping | 28.6% | 2/7 |
| Stereotypical hand wringing | 28.6% | 2/7 |
| Abnormal eating behavior | 14.3% | 1/7 |
| Obsessive-compulsive trait | 14.3% | 1/7 |
| Stereotypical body rocking | 14.3% | 1/7 |
| Brain abnormality | 83.3% | 5/6 |
| Abnormality of the corpus callosum | 33.3% | 2/6 |
| Ventriculomegaly | 33.3% | 2/6 |
| Abnormal length of corpus callosum | 16.7% | 1/6 |
| Aplasia/Hypoplasia of the corpus callosum | 16.7% | 1/6 |
| Frontal cortical atrophy | 16.7% | 1/6 |
| Facial abnormalities | ||
| Abnormality of the eye | 28.6% | 2/7 |
| Prominent epicanthal folds | 28.6% | 2/7 |
| Hypertelorism | 14.3% | 1/7 |
| Abnormality of the nose | 85.7% | 6/7 |
| Short columella | 85.7% | 6/7 |
| Depressed nasal bridge | 57.1% | 4/7 |
| Abnormality of the mouth | 100.0% | 7/7 |
| Downturned corners of mouth | 71.4% | 5/7 |
| Deep philtrum | 57.1% | 4/7 |
| Abnormality of mouth size | 42.9% | 3/7 |
| Tented upper lip vermilion | 42.9% | 3/7 |
| Abnormality of the philtrum | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal hearing | 14.3% | 1/7 |
| Blindness | 14.3% | 1/7 |
| Abnormal vision | 66.7% | 4/6 |
| Myopia | 33.3% | 2/6 |
| Blindness | 16.7% | 1/6 |
| Nystagmus | 16.7% | 1/6 |
| Poor eye contact | 16.7% | 1/6 |
| Heart | ||
| Abnormality of the heart | 16.7% | 1/6 |
| Patent foramen ovale | 16.7% | 1/6 |
| Patent ductus arteriosus | 16.7% | 1/6 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 85.7% | 6/7 |
| Feeding difficulties | 57.1% | 4/7 |
| Constipation | 42.9% | 3/7 |
| Gastroesophageal reflux | 42.9% | 3/7 |
| Urogenital | ||
| Abnormality of the urogenital system | 28.6% | 2/7 |
| Partially duplicated kidney | 14.3% | 1/7 |
| Vesicoureteral reflux | 14.3% | 1/7 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 28.6% | 2/7 |
| Capillary hemangiomas | 28.6% | 2/7 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 50.0% | 3/6 |
| Recurrent infections | 33.3% | 2/6 |
| Recurrent bronchopulmonary infections | 16.7% | 1/6 |