VPS13D
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 40.0% | 10/25 |
| Female | 60.0% | 15/25 |
| Indifferent | 0% | 0/25 |
| Unknown | 0% | 0/25 |
| General | ||
| Birth Length abnormalities | 0% | 0/25 |
| Birth Weight abnormalities | 0% | 0/25 |
| Birth Head circumference abnormalities | 0% | 0/25 |
| Current Height abnormalities | 0% | 0/25 |
| Current Weight abnormalities | 0% | 0/25 |
| Current Head circumference abnormalities | 12.0% | 3/25 |
| < P3 : Microcephaly | 8.0% | 2/25 |
| > P98 : Macrocephaly | 4.0% | 1/25 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 25/25 |
| Babinski sign | 76.0% | 19/25 |
| Dysarthria | 44.0% | 11/25 |
| Abnormal pyramidal signs | 40.0% | 10/25 |
| Dystonia | 32.0% | 8/25 |
| Hyperreflexia | 28.0% | 7/25 |
| Lower limb spasticity | 24.0% | 6/25 |
| Spastic paraplegia | 24.0% | 6/25 |
| Brisk reflexes | 20.0% | 5/25 |
| Decreased/absent ankle reflexes | 20.0% | 5/25 |
| Degeneration of anterior horn cells | 20.0% | 5/25 |
| Distal upper limb amyotrophy | 20.0% | 5/25 |
| Distal lower limb amyotrophy | 20.0% | 5/25 |
| Hyperactive patellar reflex | 20.0% | 5/25 |
| Impaired pain sensation | 20.0% | 5/25 |
| Impaired temperature sensation | 20.0% | 5/25 |
| Progressive gait ataxia | 20.0% | 5/25 |
| Sensorimotor neuropathy | 20.0% | 5/25 |
| Spastic ataxia | 20.0% | 5/25 |
| Gait ataxia | 16.0% | 4/25 |
| Unsteady gait | 16.0% | 4/25 |
| Ataxia | 12.0% | 3/25 |
| Chorea | 12.0% | 3/25 |
| Muscular hypotonia | 12.0% | 3/25 |
| Seizures | 12.0% | 3/25 |
| Spastic gait | 12.0% | 3/25 |
| Tremor | 12.0% | 3/25 |
| Gait disturbance | 8.0% | 2/25 |
| Limb ataxia | 8.0% | 2/25 |
| Sensory impairment | 8.0% | 2/25 |
| Torticollis | 8.0% | 2/25 |
| Areflexia | 4.0% | 1/25 |
| Distal sensory impairment of all modalities | 4.0% | 1/25 |
| Frequent falls | 4.0% | 1/25 |
| Incoordination | 4.0% | 1/25 |
| Lower limb hyperreflexia | 4.0% | 1/25 |
| Peripheral axonal neuropathy | 4.0% | 1/25 |
| Progressive spastic paraplegia | 4.0% | 1/25 |
| Spastic paraparesis | 4.0% | 1/25 |
| Truncal ataxia | 4.0% | 1/25 |
| Behavioral problems | 100.0% | 1/1 |
| Head-banging | 100.0% | 1/1 |
| Poor eye contact | 100.0% | 1/1 |
| Recurrent hand flapping | 100.0% | 1/1 |
| Brain abnormality | 87.5% | 14/16 |
| Abnormality of the cerebellum | 68.8% | 11/16 |
| Cerebellar atrophy | 43.8% | 7/16 |
| Aplasia/Hypoplasia of the cerebellar vermis | 6.3% | 1/16 |
| Leukoencephalopathy | 6.3% | 1/16 |
| Visual and hearing impairments | ||
| Abnormal vision | 84.6% | 11/13 |
| Abnormality of saccadic eye movements | 69.2% | 9/13 |
| Myoclonus | 38.5% | 5/13 |
| Cataract | 7.7% | 1/13 |
| Chorioretinal dystrophy | 7.7% | 1/13 |
| Gaze-evoked nystagmus | 7.7% | 1/13 |
| Jerky ocular pursuit movements | 7.7% | 1/13 |
| Nystagmus | 7.7% | 1/13 |
| Optic atrophy | 7.7% | 1/13 |
| Urogenital | ||
| Abnormality of the urogenital system | 100.0% | 3/3 |
| Azoospermia | 33.3% | 1/3 |
| Neurogenic bladder | 33.3% | 1/3 |
| Oligospermia | 33.3% | 1/3 |