USP7
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 2/4 |
| Female | 50.0% | 2/4 |
| Indifferent | 0% | 0/4 |
| Unknown | 0% | 0/4 |
| General | ||
| Birth Length abnormalities | 0% | 0/4 |
| Birth Weight abnormalities | 0% | 0/4 |
| Birth Head circumference abnormalities | 0% | 0/4 |
| Current Height abnormalities | 0% | 0/4 |
| Current Weight abnormalities | 0% | 0/4 |
| Current Head circumference abnormalities | 0% | 0/4 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 4/4 |
| EEG with centrotemporal focal spike waves | 25.0% | 1/4 |
| Generalized non-motor (absence) seizure | 25.0% | 1/4 |
| Intellectual disability | 25.0% | 1/4 |
| Seizure | 25.0% | 1/4 |
| Speech articulation difficulties | 25.0% | 1/4 |
| Status epilepticus | 25.0% | 1/4 |
| Behavioral problems | 50.0% | 2/4 |
| Anxiety | 25.0% | 1/4 |
| Attention deficit hyperactivity disorder | 25.0% | 1/4 |
| Autism | 25.0% | 1/4 |
| Brain abnormality | 25.0% | 1/4 |
| Abnormal cerebral white matter morphology | 25.0% | 1/4 |
| Facial abnormalities | ||
| Abnormality of the ear | 25.0% | 1/4 |
| obsolete Bilateral external ear deformity | 25.0% | 1/4 |
| Abnormality of the eye | 50.0% | 2/4 |
| Downslanted palpebral fissures | 25.0% | 1/4 |
| Hypertelorism | 25.0% | 1/4 |
| Abnormality of the mouth | 50.0% | 2/4 |
| Abnormality of mouth size | 25.0% | 1/4 |
| High palate | 25.0% | 1/4 |
| Visual and hearing impairments | ||
| Abnormal hearing | 33.3% | 1/3 |
| Acute otitis media | 33.3% | 1/3 |
| Abnormal vision | 33.3% | 1/3 |
| Myopia | 33.3% | 1/3 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 25.0% | 1/4 |
| Chronic constipation | 25.0% | 1/4 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 25.0% | 1/4 |
| Hypertrichosis | 25.0% | 1/4 |