MECP2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/6 |
| Female | 100.0% | 6/6 |
| Indifferent | 0% | 0/6 |
| Unknown | 0% | 0/6 |
| General | ||
| Birth Length abnormalities | 0% | 0/6 |
| Birth Weight abnormalities | 16.7% | 1/6 |
| < P3 : Small for gestational age | 16.7% | 1/6 |
| Birth Head circumference abnormalities | 0% | 0/6 |
| Current Height abnormalities | 0% | 0/6 |
| Current Weight abnormalities | 33.3% | 2/6 |
| < P3 : Decreased body weight | 33.3% | 2/6 |
| Current Head circumference abnormalities | 83.3% | 5/6 |
| < P3 : Microcephaly | 83.3% | 5/6 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 6/6 |
| Motor delay | 100.0% | 6/6 |
| Seizure | 66.7% | 4/6 |
| Loss of speech | 50.0% | 3/6 |
| Delayed speech and language development | 33.3% | 2/6 |
| Gait ataxia | 33.3% | 2/6 |
| Focal clonic seizure | 16.7% | 1/6 |
| Hypotonia | 16.7% | 1/6 |
| Inability to walk | 16.7% | 1/6 |
| Limb dystonia | 16.7% | 1/6 |
| obsolete Loss of ability to walk | 16.7% | 1/6 |
| Urinary bladder sphincter dysfunction | 16.7% | 1/6 |
| Behavioral problems | 100.0% | 6/6 |
| Stereotypical hand wringing | 100.0% | 6/6 |
| Bruxism | 66.7% | 4/6 |
| Autism | 33.3% | 2/6 |
| Agitation | 16.7% | 1/6 |
| Self-mutilation | 16.7% | 1/6 |
| Brain abnormality | 25.0% | 1/4 |
| Frontal cortical atrophy | 25.0% | 1/4 |
| Facial abnormalities | ||
| Abnormality of the ear | 20.0% | 1/5 |
| obsolete External ear malformation | 20.0% | 1/5 |
| Abnormality of the eye | 20.0% | 1/5 |
| Malar flattening | 20.0% | 1/5 |
| Pulmonary | ||
| Abnormality of the lungs | 50.0% | 3/6 |
| Hyperventilation | 33.3% | 2/6 |
| Aspiration pneumonia | 16.7% | 1/6 |
| Urogenital | ||
| Abnormality of the urogenital system | 80.0% | 4/5 |
| Urinary bladder sphincter dysfunction | 60.0% | 3/5 |
| Functional abnormality of the bladder | 20.0% | 1/5 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 3/6 |
| Scoliosis | 50.0% | 3/6 |