| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 68.8% | 11/16 |
| Female | 31.3% | 5/16 |
| General | ||
| Birth Length abnormalities | 0% | 0/16 |
| Birth Weight abnormalities | 0% | 0/16 |
| Birth Head circumference abnormalities | 0% | 0/16 |
| Current Height abnormalities | 0% | 0/16 |
| Current Weight abnormalities | 0% | 0/16 |
| Current Head circumference abnormalities | 0% | 0/16 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 16/16 |
| Global developmental delay | 56.3% | 9/16 |
| Areflexia of lower limbs | 37.5% | 6/16 |
| Impaired pain sensation | 31.3% | 5/16 |
| Generalized-onset seizure | 25.0% | 4/16 |
| Hypertonia | 18.8% | 3/16 |
| Reduced tendon reflexes | 12.5% | 2/16 |
| Status epilepticus | 12.5% | 2/16 |
| Absent speech | 6.3% | 1/16 |
| Ankle clonus | 6.3% | 1/16 |
| Areflexia | 6.3% | 1/16 |
| Autism | 6.3% | 1/16 |
| Babinski sign | 6.3% | 1/16 |
| Distal muscle weakness | 6.3% | 1/16 |
| Gait imbalance | 6.3% | 1/16 |
| Gait disturbance | 6.3% | 1/16 |
| Muscle stiffness | 6.3% | 1/16 |
| obsolete Distal sensory loss of all modalities | 6.3% | 1/16 |
| Progressive muscle weakness | 6.3% | 1/16 |
| Seizure | 6.3% | 1/16 |
| Somatic sensory dysfunction | 6.3% | 1/16 |
| Steppage gait | 6.3% | 1/16 |
| Behavioral problems | 77.8% | 7/9 |
| Hyperactivity | 33.3% | 3/9 |
| Autistic behavior | 22.2% | 2/9 |
| Sleep disturbance | 22.2% | 2/9 |
| Autism | 11.1% | 1/9 |
| Self-mutilation | 11.1% | 1/9 |
| Self-biting | 11.1% | 1/9 |
| Brain abnormality | 55.6% | 5/9 |
| CNS hypomyelination | 22.2% | 2/9 |
| Abnormal CNS myelination | 11.1% | 1/9 |
| Chiari type I malformation | 11.1% | 1/9 |
| CNS demyelination | 11.1% | 1/9 |
| Hydrocephalus | 11.1% | 1/9 |
| Mild fetal ventriculomegaly | 11.1% | 1/9 |
| Visual and hearing impairments | ||
| Abnormal hearing | 50.0% | 1/2 |
| Severe sensorineural hearing impairment | 50.0% | 1/2 |
| Pulmonary | ||
| Abnormality of the lungs | 25.0% | 1/4 |
| Asthma | 25.0% | 1/4 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 75.0% | 3/4 |
| Gastroesophageal reflux | 50.0% | 2/4 |
| Constipation | 25.0% | 1/4 |
| Skeleton | ||
| Skeletal abnormalities | 91.7% | 11/12 |
| Distal lower limb amyotrophy | 50.0% | 6/12 |
| Distal lower limb muscle weakness | 50.0% | 6/12 |
| Distal upper limb muscle weakness | 50.0% | 6/12 |
| Distal upper limb amyotrophy | 50.0% | 6/12 |
| Pes planus | 16.7% | 2/12 |
| Skeletal muscle atrophy | 16.7% | 2/12 |
| Distal muscle weakness | 8.3% | 1/12 |
| Pes valgus | 8.3% | 1/12 |
| Scoliosis | 8.3% | 1/12 |
| Talipes equinovarus | 8.3% | 1/12 |