APOPT1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 37.5% | 3/8 |
| Female | 62.5% | 5/8 |
| Indifferent | 0% | 0/8 |
| Unknown | 0% | 0/8 |
| General | ||
| Birth Length abnormalities | 0% | 0/8 |
| Birth Weight abnormalities | 0% | 0/8 |
| Birth Head circumference abnormalities | 0% | 0/8 |
| Current Height abnormalities | 0% | 0/8 |
| Current Weight abnormalities | 0% | 0/8 |
| Current Head circumference abnormalities | 0% | 0/8 |
| Neurology | ||
| Neurological abnormalities | 87.5% | 7/8 |
| Developmental regression | 75.0% | 6/8 |
| Spastic tetraparesis | 62.5% | 5/8 |
| Dysarthria | 50.0% | 4/8 |
| Gait disturbance | 50.0% | 4/8 |
| Ataxia | 37.5% | 3/8 |
| Sensorimotor neuropathy | 37.5% | 3/8 |
| Babinski sign | 25.0% | 2/8 |
| Dysphagia | 25.0% | 2/8 |
| Peripheral neuropathy | 25.0% | 2/8 |
| Seizures | 25.0% | 2/8 |
| Spasticity | 25.0% | 2/8 |
| Absent speech | 12.5% | 1/8 |
| Aphasia | 12.5% | 1/8 |
| Axial muscle stiffness | 12.5% | 1/8 |
| Brisk reflexes | 12.5% | 1/8 |
| Decorticate rigidity | 12.5% | 1/8 |
| Focal seizures | 12.5% | 1/8 |
| Frequent falls | 12.5% | 1/8 |
| Gait ataxia | 12.5% | 1/8 |
| Generalized muscle weakness | 12.5% | 1/8 |
| Hemiparesis | 12.5% | 1/8 |
| Intention tremor | 12.5% | 1/8 |
| Loss of speech | 12.5% | 1/8 |
| Loss of ability to walk | 12.5% | 1/8 |
| Lower limb hypertonia | 12.5% | 1/8 |
| Lower limb muscle weakness | 12.5% | 1/8 |
| Lower limb spasticity | 12.5% | 1/8 |
| Muscle weakness | 12.5% | 1/8 |
| Muscular hypotonia of the trunk | 12.5% | 1/8 |
| Nystagmus | 12.5% | 1/8 |
| Proximal limb muscle stiffness | 12.5% | 1/8 |
| Severe muscular hypotonia | 12.5% | 1/8 |
| Spastic gait | 12.5% | 1/8 |
| Upper limb hypertonia | 12.5% | 1/8 |
| Behavioral problems | 12.5% | 1/8 |
| Irritability | 12.5% | 1/8 |
| Reduced consciousness/confusion | 12.5% | 1/8 |
| Brain abnormality | 100.0% | 8/8 |
| Cerebral white matter atrophy | 100.0% | 8/8 |
| Cerebellar cyst | 75.0% | 6/8 |
| Abnormality of the periventricular white matter | 50.0% | 4/8 |
| Corpus callosum atrophy | 50.0% | 4/8 |
| Elevated brain lactate level by MRS | 50.0% | 4/8 |
| Abnormality of the corpus callosum | 37.5% | 3/8 |
| Abnormal pyramidal signs | 37.5% | 3/8 |
| Dilation of lateral ventricles | 37.5% | 3/8 |
| Abnormality of midbrain morphology | 25.0% | 2/8 |
| Leukoencephalopathy | 25.0% | 2/8 |
| Widened subarachnoid space | 25.0% | 2/8 |
| Abnormality of the cerebellum | 12.5% | 1/8 |
| Abnormality of brainstem morphology | 12.5% | 1/8 |
| Abnormality of the cerebellar peduncle | 12.5% | 1/8 |
| Cerebral atrophy | 12.5% | 1/8 |
| Visual and hearing impairments | ||
| Abnormal hearing | 12.5% | 1/8 |
| Hearing impairment | 12.5% | 1/8 |
| Abnormal vision | 12.5% | 1/8 |
| Visual loss | 12.5% | 1/8 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 33.3% | 1/3 |
| Vomiting | 33.3% | 1/3 |