PTPN23
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/2 |
| Female | 100.0% | 2/2 |
| Indifferent | 0% | 0/2 |
| Unknown | 0% | 0/2 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 0% | 0/2 |
| Birth Head circumference abnormalities | 100.0% | 1/1 |
| < P3 : Congenital microcephaly | 100.0% | 1/1 |
| Current Height abnormalities | 0% | 0/2 |
| Current Weight abnormalities | 0% | 0/2 |
| Current Head circumference abnormalities | 100.0% | 2/2 |
| < P3 : Microcephaly | 100.0% | 2/2 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 2/2 |
| Central hypotonia | 100.0% | 2/2 |
| Limb hypertonia | 100.0% | 2/2 |
| Seizures | 100.0% | 2/2 |
| Autonomic dysregulation | 50.0% | 1/2 |
| Clonus | 50.0% | 1/2 |
| Dystonia | 50.0% | 1/2 |
| Poor suck | 50.0% | 1/2 |
| Progressive spasticity | 50.0% | 1/2 |
| Brain abnormality | 100.0% | 2/2 |
| Brain atrophy | 100.0% | 2/2 |
| Aplasia/Hypoplasia of the optic nerve | 50.0% | 1/2 |
| Aplasia/Hypoplasia of the corpus callosum | 50.0% | 1/2 |
| CNS demyelination | 50.0% | 1/2 |
| CNS hypomyelination | 50.0% | 1/2 |
| Delayed myelination | 50.0% | 1/2 |
| Dilation of lateral ventricles | 50.0% | 1/2 |
| EEG with generalized slow activity | 50.0% | 1/2 |
| EEG with focal epileptiform discharges | 50.0% | 1/2 |
| EEG with generalized polyspikes | 50.0% | 1/2 |
| EEG with generalized spikes | 50.0% | 1/2 |
| Encephalopathy | 50.0% | 1/2 |
| Epileptic encephalopathy | 50.0% | 1/2 |
| Hypsarrhythmia | 50.0% | 1/2 |
| Optic nerve hypoplasia | 50.0% | 1/2 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 2/2 |
| Abnormality of eye movement | 100.0% | 2/2 |
| Abnormality of visual evoked potentials | 50.0% | 1/2 |
| Nystagmus | 50.0% | 1/2 |
| Visual impairment | 50.0% | 1/2 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 1/1 |
| Constipation | 100.0% | 1/1 |
| Dysphagia | 100.0% | 1/1 |
| Gastrointestinal dysmotility | 100.0% | 1/1 |
| Gastroesophageal reflux | 100.0% | 1/1 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 1/1 |
| Hirsutism | 100.0% | 1/1 |
| Premature thelarche | 100.0% | 1/1 |