THOC2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 88.9% | 8/9 |
| Female | 11.1% | 1/9 |
| Indifferent | 0% | 0/9 |
| Unknown | 0% | 0/9 |
| Neurology | ||
| Neurological abnormalities | 77.8% | 7/9 |
| Central hypotonia | 77.8% | 7/9 |
| Ataxia | 11.1% | 1/9 |
| Epileptic encephalopathy | 11.1% | 1/9 |
| Generalized myoclonic seizures | 11.1% | 1/9 |
| Infantile spasms | 11.1% | 1/9 |
| Progressive spasticity | 11.1% | 1/9 |
| Seizures | 11.1% | 1/9 |
| Tremor | 11.1% | 1/9 |
| Behavioral problems | 55.6% | 5/9 |
| Autism | 33.3% | 3/9 |
| Aggressive behavior | 22.2% | 2/9 |
| Hyperactivity | 22.2% | 2/9 |
| Anxiety | 11.1% | 1/9 |
| Attention deficit hyperactivity disorder | 11.1% | 1/9 |
| Brain abnormality | 50.0% | 4/8 |
| Abnormality of midbrain morphology | 12.5% | 1/8 |
| Abnormality of the periventricular white matter | 12.5% | 1/8 |
| Abnormal cortical gyration | 12.5% | 1/8 |
| Aplasia/Hypoplasia of the corpus callosum | 12.5% | 1/8 |
| Cerebellar atrophy | 12.5% | 1/8 |
| Corpus callosum atrophy | 12.5% | 1/8 |
| Delayed CNS myelination | 12.5% | 1/8 |
| Delayed myelination | 12.5% | 1/8 |
| Facial abnormalities | ||
| Abnormality of the ear | 12.5% | 1/8 |
| Low-set ears | 12.5% | 1/8 |
| Abnormality of the eye | 25.0% | 2/8 |
| Depressed nasal bridge | 12.5% | 1/8 |
| Nystagmus | 12.5% | 1/8 |
| Prominent epicanthal folds | 12.5% | 1/8 |
| Abnormality of the mouth | 12.5% | 1/8 |
| Abnormality of the palate | 12.5% | 1/8 |
| Visual and hearing impairments | ||
| Abnormal hearing | 25.0% | 2/8 |
| Bilateral sensorineural hearing impairment | 12.5% | 1/8 |
| Chronic otitis media | 12.5% | 1/8 |
| Abnormal vision | 22.2% | 2/9 |
| Cortical visual impairment | 11.1% | 1/9 |
| Myopia | 11.1% | 1/9 |
| Visual impairment | 11.1% | 1/9 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 11.1% | 1/9 |
| Gastrostomy tube feeding in infancy | 11.1% | 1/9 |
| Gastroesophageal reflux | 11.1% | 1/9 |
| Urogenital | ||
| Abnormality of the urogenital system | 22.2% | 2/9 |
| Hypospadias | 11.1% | 1/9 |
| Recurrent urinary tract infections | 11.1% | 1/9 |
| Urinary retention | 11.1% | 1/9 |
| Skeleton | ||
| Skeletal abnormalities | 44.4% | 4/9 |
| Bilateral coxa valga | 11.1% | 1/9 |
| Generalized joint laxity | 11.1% | 1/9 |
| Hip Subluxation | 11.1% | 1/9 |
| Pes planus | 11.1% | 1/9 |
| Short stature | 11.1% | 1/9 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 11.1% | 1/9 |
| Short stature | 11.1% | 1/9 |