SYT1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 54.5% | 12/22 |
| Female | 45.5% | 10/22 |
| Indifferent | 0% | 0/22 |
| Unknown | 0% | 0/22 |
| General | ||
| Birth Length abnormalities | 0% | 0/22 |
| Birth Weight abnormalities | 0% | 0/22 |
| Birth Head circumference abnormalities | 0% | 0/22 |
| Current Height abnormalities | 9.1% | 2/22 |
| < P3 : Short stature | 9.1% | 2/22 |
| Current Weight abnormalities | 22.7% | 5/22 |
| < P3 : Decreased body weight | 22.7% | 5/22 |
| Current Head circumference abnormalities | 13.6% | 3/22 |
| < P3 : Microcephaly | 4.5% | 1/22 |
| > P98 : Macrocephaly | 9.1% | 2/22 |
| Neurology | ||
| Neurological abnormalities | 90.5% | 19/21 |
| Neonatal hypotonia | 90.5% | 19/21 |
| Sleep disturbance | 38.1% | 8/21 |
| Dystonia | 28.6% | 6/21 |
| Ataxia | 19.0% | 4/21 |
| Chorea | 19.0% | 4/21 |
| Hypersomnia | 14.3% | 3/21 |
| Dysphagia | 9.5% | 2/21 |
| Hyperkinesis | 9.5% | 2/21 |
| Myoclonus | 9.5% | 2/21 |
| Sleep apnea | 9.5% | 2/21 |
| Tremor | 9.5% | 2/21 |
| Abnormal autonomic nervous system physiology | 4.8% | 1/21 |
| Athetoid cerebral palsy | 4.8% | 1/21 |
| Athetosis | 4.8% | 1/21 |
| Central apnea | 4.8% | 1/21 |
| Choreoathetosis | 4.8% | 1/21 |
| Drooling | 4.8% | 1/21 |
| Gait ataxia | 4.8% | 1/21 |
| Infantile spasms | 4.8% | 1/21 |
| Seizures | 4.8% | 1/21 |
| Behavioral problems | 100.0% | 18/18 |
| Self-biting | 38.9% | 7/18 |
| Stereotypic behavior | 33.3% | 6/18 |
| Autism | 22.2% | 4/18 |
| Head-banging | 11.1% | 2/18 |
| Hyperactivity | 11.1% | 2/18 |
| Repetitive compulsive behavior | 11.1% | 2/18 |
| Agitation | 5.6% | 1/18 |
| Autistic behavior | 5.6% | 1/18 |
| Bruxism | 5.6% | 1/18 |
| Impulsivity | 5.6% | 1/18 |
| Low frustration tolerance | 5.6% | 1/18 |
| Obsessive-compulsive behavior | 5.6% | 1/18 |
| Psychosis | 5.6% | 1/18 |
| Schizophrenia | 5.6% | 1/18 |
| Self-injurious behavior | 5.6% | 1/18 |
| Skin-picking | 5.6% | 1/18 |
| Tics | 5.6% | 1/18 |
| Brain abnormality | 55.6% | 5/9 |
| Abnormality of the periventricular white matter | 11.1% | 1/9 |
| Abnormality of the cerebral white matter | 11.1% | 1/9 |
| Delayed myelination | 11.1% | 1/9 |
| Heterotopia | 11.1% | 1/9 |
| Hypsarrhythmia | 11.1% | 1/9 |
| Visual and hearing impairments | ||
| Abnormal vision | 90.0% | 18/20 |
| Esotropia | 35.0% | 7/20 |
| Nystagmus | 30.0% | 6/20 |
| Strabismus | 20.0% | 4/20 |
| Hypermetropia | 15.0% | 3/20 |
| Exotropia | 5.0% | 1/20 |
| Visual impairment | 5.0% | 1/20 |
| Heart | ||
| Abnormality of the heart | 18.2% | 2/11 |
| Cyanotic episode | 18.2% | 2/11 |
| Pulmonary | ||
| Abnormality of the lungs | 16.7% | 1/6 |
| Laryngomalacia | 16.7% | 1/6 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 65.0% | 13/20 |
| Feeding difficulties | 30.0% | 6/20 |
| Gastroesophageal reflux | 30.0% | 6/20 |
| Constipation | 15.0% | 3/20 |
| Chronic diarrhea | 5.0% | 1/20 |
| Feeding difficulties in infancy | 5.0% | 1/20 |
| Pancreatitis | 5.0% | 1/20 |
| Urogenital | ||
| Abnormality of the urogenital system | 17.6% | 3/17 |
| Urinary retention | 11.8% | 2/17 |
| Cryptorchidism | 5.9% | 1/17 |
| Skeleton | ||
| Skeletal abnormalities | 69.2% | 9/13 |
| Abnormality of the thorax | 7.7% | 1/13 |
| Bilateral talipes equinovarus | 7.7% | 1/13 |
| Choreoathetosis | 7.7% | 1/13 |
| Joint laxity | 7.7% | 1/13 |
| Lumbar hyperlordosis | 7.7% | 1/13 |
| Myoclonus | 7.7% | 1/13 |
| Pes planus | 7.7% | 1/13 |
| Progressive flexion contractures | 7.7% | 1/13 |
| Talipes valgus | 7.7% | 1/13 |
| Talipes | 7.7% | 1/13 |
| Torticollis | 7.7% | 1/13 |
| 2-3 toe syndactyly | 7.7% | 1/13 |