ATP1A1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 52.1% | 25/48 |
| Female | 31.3% | 15/48 |
| Indifferent | 0% | 0/48 |
| Unknown | 16.7% | 8/48 |
| General | ||
| Birth Length abnormalities | 0% | 0/48 |
| Birth Weight abnormalities | 0% | 0/48 |
| Birth Head circumference abnormalities | 0% | 0/48 |
| Current Height abnormalities | 0% | 0/48 |
| Current Weight abnormalities | 0% | 0/48 |
| Current Head circumference abnormalities | 0% | 0/48 |
| Neurology | ||
| Neurological abnormalities | 97.9% | 47/48 |
| Absent Achilles reflex | 45.8% | 22/48 |
| Distal lower limb muscle weakness | 39.6% | 19/48 |
| Impaired vibration sensation in the lower limbs | 35.4% | 17/48 |
| Absent patellar reflexes | 33.3% | 16/48 |
| Distal upper limb muscle weakness | 27.1% | 13/48 |
| Hyporeflexia of upper limbs | 25.0% | 12/48 |
| Global developmental delay | 18.8% | 9/48 |
| Areflexia of lower limbs | 16.7% | 8/48 |
| Impaired distal vibration sensation | 16.7% | 8/48 |
| Decreased patellar reflex | 10.4% | 5/48 |
| Impaired pain sensation | 10.4% | 5/48 |
| Impaired vibration sensation at ankles | 10.4% | 5/48 |
| Areflexia of upper limbs | 8.3% | 4/48 |
| Generalized-onset seizure | 8.3% | 4/48 |
| Decreased Achilles reflex | 6.3% | 3/48 |
| Hypertonia | 6.3% | 3/48 |
| Ankle clonus | 4.2% | 2/48 |
| Babinski sign | 4.2% | 2/48 |
| Reduced tendon reflexes | 4.2% | 2/48 |
| Seizure | 4.2% | 2/48 |
| Status epilepticus | 4.2% | 2/48 |
| Abolished vibration sense | 2.1% | 1/48 |
| Absent speech | 2.1% | 1/48 |
| Areflexia | 2.1% | 1/48 |
| Autism | 2.1% | 1/48 |
| Decreased/absent ankle reflexes | 2.1% | 1/48 |
| Distal muscle weakness | 2.1% | 1/48 |
| Frequent falls | 2.1% | 1/48 |
| Gait disturbance | 2.1% | 1/48 |
| Gait ataxia | 2.1% | 1/48 |
| Gait imbalance | 2.1% | 1/48 |
| Moderate global developmental delay | 2.1% | 1/48 |
| Muscle stiffness | 2.1% | 1/48 |
| obsolete Distal sensory loss of all modalities | 2.1% | 1/48 |
| Progressive muscle weakness | 2.1% | 1/48 |
| Severe global developmental delay | 2.1% | 1/48 |
| Somatic sensory dysfunction | 2.1% | 1/48 |
| Spastic gait | 2.1% | 1/48 |
| Spastic paraplegia | 2.1% | 1/48 |
| Steppage gait | 2.1% | 1/48 |
| Behavioral problems | 25.0% | 10/40 |
| Sleep disturbance | 12.5% | 5/40 |
| Hyperactivity | 7.5% | 3/40 |
| Autistic behavior | 5.0% | 2/40 |
| Irritability | 5.0% | 2/40 |
| Attention deficit hyperactivity disorder | 2.5% | 1/40 |
| Autism | 2.5% | 1/40 |
| Self-mutilation | 2.5% | 1/40 |
| Self-biting | 2.5% | 1/40 |
| Brain abnormality | 12.8% | 5/39 |
| CNS hypomyelination | 5.1% | 2/39 |
| Abnormal CNS myelination | 2.6% | 1/39 |
| Chiari type I malformation | 2.6% | 1/39 |
| CNS demyelination | 2.6% | 1/39 |
| Hydrocephalus | 2.6% | 1/39 |
| Mild fetal ventriculomegaly | 2.6% | 1/39 |
| Visual and hearing impairments | ||
| Abnormal hearing | 33.3% | 1/3 |
| Severe sensorineural hearing impairment | 33.3% | 1/3 |
| Pulmonary | ||
| Abnormality of the lungs | 40.0% | 2/5 |
| Abnormality of the respiratory system | 20.0% | 1/5 |
| Asthma | 20.0% | 1/5 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 83.3% | 5/6 |
| Dysphagia | 33.3% | 2/6 |
| Gastroesophageal reflux | 33.3% | 2/6 |
| Constipation | 16.7% | 1/6 |
| Skeleton | ||
| Skeletal abnormalities | 97.1% | 33/34 |
| Pes cavus | 52.9% | 18/34 |
| Distal lower limb amyotrophy | 17.6% | 6/34 |
| Distal upper limb muscle weakness | 17.6% | 6/34 |
| Distal lower limb muscle weakness | 17.6% | 6/34 |
| Distal upper limb amyotrophy | 17.6% | 6/34 |
| Pes planus | 11.8% | 4/34 |
| Skeletal muscle atrophy | 5.9% | 2/34 |
| Distal muscle weakness | 2.9% | 1/34 |
| Foot dorsiflexor weakness | 2.9% | 1/34 |
| Hand muscle atrophy | 2.9% | 1/34 |
| Pes valgus | 2.9% | 1/34 |
| Scoliosis | 2.9% | 1/34 |
| Short foot | 2.9% | 1/34 |
| Talipes equinovarus | 2.9% | 1/34 |