ATP8A2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 30.8% | 8/26 |
| Female | 69.2% | 18/26 |
| Indifferent | 0% | 0/26 |
| Unknown | 0% | 0/26 |
| General | ||
| Birth Length abnormalities | 0% | 0/26 |
| Birth Weight abnormalities | 0% | 0/26 |
| Birth Head circumference abnormalities | 0% | 0/26 |
| Current Height abnormalities | 23.1% | 6/26 |
| < P3 : Short stature | 23.1% | 6/26 |
| Current Weight abnormalities | 34.6% | 9/26 |
| < P3 : Decreased body weight | 34.6% | 9/26 |
| Current Head circumference abnormalities | 38.5% | 10/26 |
| < P3 : Microcephaly | 38.5% | 10/26 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 26/26 |
| Choreoathetosis | 61.5% | 16/26 |
| Muscular hypotonia | 61.5% | 16/26 |
| Dystonia | 42.3% | 11/26 |
| Dysarthria | 19.2% | 5/26 |
| Muscle weakness | 19.2% | 5/26 |
| Orofacial dyskinesia | 19.2% | 5/26 |
| Seizures | 19.2% | 5/26 |
| Severe muscular hypotonia | 19.2% | 5/26 |
| Brisk reflexes | 15.4% | 4/26 |
| Infantile axial hypotonia | 15.4% | 4/26 |
| Sleep disturbance | 15.4% | 4/26 |
| Ataxia | 11.5% | 3/26 |
| Chorea | 11.5% | 3/26 |
| Dysmetria | 11.5% | 3/26 |
| Head titubation | 11.5% | 3/26 |
| Poor head control | 11.5% | 3/26 |
| Tremor | 11.5% | 3/26 |
| Truncal ataxia | 11.5% | 3/26 |
| Gait ataxia | 7.7% | 2/26 |
| Progressive cerebellar ataxia | 7.7% | 2/26 |
| Abnormal pyramidal signs | 3.8% | 1/26 |
| Horizontal nystagmus | 3.8% | 1/26 |
| Hyperreflexia | 3.8% | 1/26 |
| Involuntary movements | 3.8% | 1/26 |
| Muscular hypotonia of the trunk | 3.8% | 1/26 |
| Myoclonus | 3.8% | 1/26 |
| Reduced tendon reflexes | 3.8% | 1/26 |
| Torticollis | 3.8% | 1/26 |
| Brain abnormality | 50.0% | 11/22 |
| Encephalopathy | 22.7% | 5/22 |
| Abnormality of the corpus callosum | 13.6% | 3/22 |
| Delayed CNS myelination | 13.6% | 3/22 |
| Cerebral atrophy | 9.1% | 2/22 |
| Cerebellar atrophy | 9.1% | 2/22 |
| Abnormality of the cerebral white matter | 4.5% | 1/22 |
| Abnormal myelination | 4.5% | 1/22 |
| Delayed myelination | 4.5% | 1/22 |
| Frontal cortical atrophy | 4.5% | 1/22 |
| Heterotopia | 4.5% | 1/22 |
| Hypoplasia of the corpus callosum | 4.5% | 1/22 |
| Facial abnormalities | ||
| Abnormality of the nose | 33.3% | 1/3 |
| Anteverted nares | 33.3% | 1/3 |
| Abnormality of the mouth | 33.3% | 1/3 |
| Gingival overgrowth | 33.3% | 1/3 |
| Visual and hearing impairments | ||
| Abnormal hearing | 16.0% | 4/25 |
| Hearing impairment | 16.0% | 4/25 |
| Abnormal vision | 65.4% | 17/26 |
| Optic atrophy | 46.2% | 12/26 |
| Ophthalmoplegia | 26.9% | 7/26 |
| Ptosis | 15.4% | 4/26 |
| Bilateral ptosis | 11.5% | 3/26 |
| Nystagmus | 11.5% | 3/26 |
| Esotropia | 7.7% | 2/26 |
| External ophthalmoplegia | 3.8% | 1/26 |
| Impaired ocular abduction | 3.8% | 1/26 |
| Myopia | 3.8% | 1/26 |
| Optic disc hypoplasia | 3.8% | 1/26 |
| Reduced visual acuity | 3.8% | 1/26 |
| Retinopathy | 3.8% | 1/26 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 68.4% | 13/19 |
| Feeding difficulties in infancy | 47.4% | 9/19 |
| Feeding difficulties | 21.1% | 4/19 |
| Skeleton | ||
| Skeletal abnormalities | 75.0% | 6/8 |
| Pes planus | 62.5% | 5/8 |
| Pectus excavatum | 12.5% | 1/8 |
| Scoliosis | 12.5% | 1/8 |
| Skeletal muscle atrophy | 12.5% | 1/8 |