| Gender |
|
|
| Male |
14.3% |
1/7 |
| Female |
85.7% |
6/7 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
7/7 |
| Febrile seizures |
57.1% |
4/7 |
| Central hypotonia |
42.9% |
3/7 |
| Generalized seizures |
28.6% |
2/7 |
| Absence seizures |
14.3% |
1/7 |
| Gait disturbance |
14.3% |
1/7 |
| Generalized tonic-clonic seizures |
14.3% |
1/7 |
| Seizures |
14.3% |
1/7 |
| Severe global developmental delay |
14.3% |
1/7 |
| Spasticity |
14.3% |
1/7 |
| Behavioral problems |
100.0% |
7/7 |
| Stereotypic behavior |
85.7% |
6/7 |
| Autistic behavior |
42.9% |
3/7 |
| Bruxism |
28.6% |
2/7 |
| Recurrent hand flapping |
28.6% |
2/7 |
| Stereotypical hand wringing |
28.6% |
2/7 |
| Abnormal eating behavior |
14.3% |
1/7 |
| Obsessive-compulsive trait |
14.3% |
1/7 |
| Stereotypical body rocking |
14.3% |
1/7 |
| Brain abnormality |
83.3% |
5/6 |
| Abnormality of the corpus callosum |
33.3% |
2/6 |
| Ventriculomegaly |
33.3% |
2/6 |
| Abnormal length of corpus callosum |
16.7% |
1/6 |
| Aplasia/Hypoplasia of the corpus callosum |
16.7% |
1/6 |
| Frontal cortical atrophy |
16.7% |
1/6 |
| Facial abnormalities |
|
|
| Abnormality of the eye |
28.6% |
2/7 |
| Prominent epicanthal folds |
28.6% |
2/7 |
| Hypertelorism |
14.3% |
1/7 |
| Abnormality of the nose |
85.7% |
6/7 |
| Short columella |
85.7% |
6/7 |
| Depressed nasal bridge |
57.1% |
4/7 |
| Abnormality of the mouth |
100.0% |
7/7 |
| Downturned corners of mouth |
71.4% |
5/7 |
| Deep philtrum |
57.1% |
4/7 |
| Abnormality of mouth size |
42.9% |
3/7 |
| Tented upper lip vermilion |
42.9% |
3/7 |
| Abnormality of the philtrum |
14.3% |
1/7 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
14.3% |
1/7 |
| Blindness |
14.3% |
1/7 |
| Abnormal vision |
66.7% |
4/6 |
| Myopia |
33.3% |
2/6 |
| Blindness |
16.7% |
1/6 |
| Nystagmus |
16.7% |
1/6 |
| Poor eye contact |
16.7% |
1/6 |
| Heart |
|
|
| Abnormality of the heart |
16.7% |
1/6 |
| Patent foramen ovale |
16.7% |
1/6 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
85.7% |
6/7 |
| Feeding difficulties |
57.1% |
4/7 |
| Constipation |
42.9% |
3/7 |
| Gastroesophageal reflux |
42.9% |
3/7 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
28.6% |
2/7 |
| Partially duplicated kidney |
14.3% |
1/7 |
| Vesicoureteral reflux |
14.3% |
1/7 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
28.6% |
2/7 |
| Capillary hemangiomas |
28.6% |
2/7 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the immune system |
50.0% |
3/6 |
| Recurrent infections |
33.3% |
2/6 |
| Recurrent bronchopulmonary infections |
16.7% |
1/6 |