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 corpus callosum | 50.0% | 1/2 |
Aplasia/Hypoplasia of the optic nerve | 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 polyspikes | 50.0% | 1/2 |
EEG with generalized spikes | 50.0% | 1/2 |
EEG with generalized slow activity | 50.0% | 1/2 |
EEG with focal epileptiform discharges | 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 |